(used for mutation description)
(last modified March 11, 2012)
This file was created to facilitate the description of sequence variants in the CNTN1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_012058.2, covering CNTN1 transcript variant 1 (NM_001843.3). Exon 3 is alternatively spliced and skipped in transcript variant-2 (NM_175038.2).
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.4933
cttctgctgtcaagtagccagggtgggctccgccgaggcgaggaggg c.-181
. . . . . . g.4993
gcgccggtggggagatgcgctcccaggtgtttgcagcggaagtgggaaacctgtagggta c.-121
. . . . . | 02 . g.220817
tggtccagctgtgccgcaccgaggcgagcaggagcagggaacag | gtgtttaaaattatcc c.-61
. . . . . . g.220877
aactgccatagagctaaattcttttttggaaaattgaaccgaacttctactgaatacaag c.-1
. . . . . . g.220937
ATGAAAATGTGGTTGCTGGTCAGTCATCTTGTGATAATATCTATTACTACCTGTTTAGCA c.60
M K M W L L V S H L V I I S I T T C L A p.20
| 03 . . . | 04 . . . g.231109
G | AGTTTACATGGTATAGAAGATATGGTCATGGAG | TTTCTGAGGAAGACAAAGGATTTGGA c.120
E | F T W Y R R Y G H G V | S E E D K G F G p.40
^ alternatively spliced exon
. . . . . . g.231169
CCAATTTTTGAAGAGCAGCCAATCAATACCATTTATCCAGAGGAATCACTGGAAGGAAAA c.180
P I F E E Q P I N T I Y P E E S L E G K p.60
. . . . | 05. . g.234713
GTCTCACTCAACTGTAGGGCACGAGCCAGCCCTTTCCCGGTTTACAA | ATGGAGAATGAAT c.240
V S L N C R A R A S P F P V Y K | W R M N p.80
. . . . . . g.234773
AATGGGGACGTTGATCTCACAAGTGATCGATACAGTATGGTAGGAGGAAACCTTGTTATC c.300
N G D V D L T S D R Y S M V G G N L V I p.100
. . . . . . g.234833
AACAACCCTGACAAACAGAAAGATGCTGGAATATACTACTGTTTAGCATCTAATAACTAC c.360
N N P D K Q K D A G I Y Y C L A S N N Y p.120
. . . . | 06 . . g.237021
GGGATGGTCAGAAGCACTGAAGCAACCCTGAGCTTTGGAT | ATCTTGATCCTTTCCCACCT c.420
G M V R S T E A T L S F G Y | L D P F P P p.140
. . . . . . g.237081
GAGGAACGTCCTGAGGTCAGAGTAAAAGAAGGGAAAGGAATGGTGCTTCTCTGTGACCCC c.480
E E R P E V R V K E G K G M V L L C D P p.160
. | 07 . . . . . g.242284
CCATACCATTTTCCAG | ATGATCTTAGCTATCGCTGGCTTCTAAATGAATTTCCTGTATTT c.540
P Y H F P D | D L S Y R W L L N E F P V F p.180
. . . . . . g.242344
ATCACAATGGATAAACGGCGATTTGTGTCTCAGACAAATGGCAATCTCTACATTGCAAAT c.600
I T M D K R R F V S Q T N G N L Y I A N p.200
. . . . . . g.242404
GTTGAGGCTTCCGACAAAGGCAATTATTCCTGCTTTGTTTCCAGTCCTTCTATTACAAAG c.660
V E A S D K G N Y S C F V S S P S I T K p.220
. . . . | 08 . . g.245922
AGCGTGTTCAGCAAATTCATCCCACTCATTCCAATACCTGAAC | GAACAACAAAACCATAT c.720
S V F S K F I P L I P I P E R | T T K P Y p.240
. . . . . . g.245982
CCTGCTGATATTGTAGTTCAGTTCAAGGATGTATATGCATTGATGGGCCAAAATGTGACC c.780
P A D I V V Q F K D V Y A L M G Q N V T p.260
. . | 09 . . . . g.246178
TTAGAATGTTTTGCACTTGGAAA | TCCTGTTCCGGATATCCGATGGCGGAAGGTTCTAGAA c.840
L E C F A L G N | P V P D I R W R K V L E p.280
. . . . . . g.246238
CCAATGCCAAGCACTGCTGAGATTAGCACCTCTGGGGCTGTTCTTAAGATCTTCAATATT c.900
P M P S T A E I S T S G A V L K I F N I p.300
. . . . . . g.246298
CAGCTAGAAGATGAAGGCATCTATGAATGTGAGGCTGAGAACATTAGAGGAAAGGATAAA c.960
Q L E D E G I Y E C E A E N I R G K D K p.320
. . | 10 . . . . g.249260
CATCAAGCAAGAATTTATGTTCAAG | CATTCCCTGAGTGGGTAGAACACATCAATGACACA c.1020
H Q A R I Y V Q A | F P E W V E H I N D T p.340
. . . . . . g.249320
GAGGTGGACATAGGCAGTGATCTCTACTGGCCTTGTGTGGCCACAGGAAAGCCCATCCCT c.1080
E V D I G S D L Y W P C V A T G K P I P p.360
. . . | 11 . . . g.250044
ACAATCCGATGGTTGAAAAATGGATATGCG | TATCATAAAGGGGAATTAAGACTGTATGAT c.1140
T I R W L K N G Y A | Y H K G E L R L Y D p.380
. . . . . . g.250104
GTGACTTTTGAAAATGCCGGAATGTATCAGTGCATAGCTGAAAACACATATGGAGCCATT c.1200
V T F E N A G M Y Q C I A E N T Y G A I p.400
. . | 12 . . . g.251811
TATGCAAATGCTGAGTTGAAGATCTTGG | CGTTGGCTCCAACTTTTGAAATGAATCCTATG c.1260
Y A N A E L K I L A | L A P T F E M N P M p.420
. . . . . . g.251871
AAGAAAAAGATCCTGGCTGCTAAAGGTGGAAGGGTGATAATTGAATGCAAACCTAAAGCT c.1320
K K K I L A A K G G R V I I E C K P K A p.440
. . . . . | 13 g.256042
GCACCGAAACCAAAGTTTTCATGGAGTAAAGGGACAGAGTGGCTTGTCAATAGCAGCAG | A c.1380
A P K P K F S W S K G T E W L V N S S R | p.460
. . . . . . g.256102
ATACTCATTTGGGAAGATGGTAGCTTGGAAATCAACAACATTACAAGGAATGATGGAGGT c.1440
I L I W E D G S L E I N N I T R N D G G p.480
. . . . . . g.256162
ATCTATACATGCTTTGCAGAAAATAACAGAGGGAAAGCTAATAGCACTGGAACCCTTGTT c.1500
I Y T C F A E N N R G K A N S T G T L V p.500
| 14. . . . . . g.256492
ATCACAG | ATCCTACGCGAATTATATTGGCCCCAATTAATGCCGATATCACAGTTGGAGAA c.1560
I T D | P T R I I L A P I N A D I T V G E p.520
. . . . . . g.256552
AACGCCACCATGCAGTGTGCTGCGTCCTTTGATCCTGCCTTGGATCTCACATTTGTTTGG c.1620
N A T M Q C A A S F D P A L D L T F V W p.540
. . . . . . g.256612
TCCTTCAATGGCTATGTGATCGATTTTAACAAAGAGAATATTCACTACCAGAGGAATTTT c.1680
S F N G Y V I D F N K E N I H Y Q R N F p.560
| 15 . . . . . . g.271615
ATG | CTGGATTCCAATGGGGAATTACTAATCCGAAATGCGCAGCTGAAACATGCTGGAAGA c.1740
M | L D S N G E L L I R N A Q L K H A G R p.580
. . . . . . g.271675
TACACATGCACTGCCCAGACAATTGTGGACAATTCTTCAGCTTCAGCTGACCTTGTAGTG c.1800
Y T C T A Q T I V D N S S A S A D L V V p.600
| 16 . . . . . . g.293409
AGAG | GCCCTCCAGGCCCTCCAGGTGGTCTGAGAATAGAAGACATTAGAGCCACTTCTGTG c.1860
R G | P P G P P G G L R I E D I R A T S V p.620
. . . . . . g.293469
GCACTTACTTGGAGCCGTGGTTCAGACAATCATAGTCCTATTTCTAAATACACTATCCAG c.1920
A L T W S R G S D N H S P I S K Y T I Q p.640
. . . . | 17 . . g.305581
ACCAAGACTATTCTTTCAGATGACTGGAAAGATGCAAAGACAG | ATCCCCCAATTATTGAA c.1980
T K T I L S D D W K D A K T D | P P I I E p.660
. . . . . . g.305641
GGAAATATGGAGGCAGCAAGAGCAGTGGACTTAATCCCATGGATGGAGTATGAATTCCGC c.2040
G N M E A A R A V D L I P W M E Y E F R p.680
. . . . . . g.305701
GTGGTAGCAACCAATACACTGGGTAGAGGAGAGCCCAGTATACCATCTAACAGAATTAAA c.2100
V V A T N T L G R G E P S I P S N R I K p.700
. | 18 . . . . . g.326719
ACAGACGGTGCTG | CACCAAATGTGGCTCCTTCAGATGTAGGAGGTGGAGGTGGAAGAAAC c.2160
T D G A A | P N V A P S D V G G G G G R N p.720
. . | 19 . . . . g.329162
AGAGAGCTGACCATAACATGGGCG | CCTTTGTCAAGAGAATACCACTATGGCAACAATTTT c.2220
R E L T I T W A | P L S R E Y H Y G N N F p.740
. . . . . . g.329222
GGTTACATAGTGGCATTTAAGCCATTTGATGGAGAAGAATGGAAAAAAGTCACAGTTACT c.2280
G Y I V A F K P F D G E E W K K V T V T p.760
. . . . . . g.329282
AATCCTGATACTGGCCGATATGTCCATAAAGATGAAACCATGAGCCCTTCCACTGCATTT c.2340
N P D T G R Y V H K D E T M S P S T A F p.780
. . . . . . g.329342
CAAGTTAAAGTCAAGGCCTTCAACAACAAAGGAGATGGACCTTACAGCCTAGTAGCAGTC c.2400
Q V K V K A F N N K G D G P Y S L V A V p.800
. | 20 . . . . g.332822
ATTAATTCAGCACAAGACG | CTCCCAGTGAAGCCCCAACAGAAGTAGGTGTAAAAGTCTTA c.2460
I N S A Q D A | P S E A P T E V G V K V L p.820
. . . . . . g.332882
TCATCTTCTGAGATATCTGTTCATTGGGAACATGTTTTAGAAAAAATAGTGGAAAGCTAT c.2520
S S S E I S V H W E H V L E K I V E S Y p.840
| 21 . . . . . . g.337651
CAG | ATTCGGTATTGGGCTGCCCATGACAAAGAAGAAGCTGCAAACAGAGTTCAAGTCACC c.2580
Q | I R Y W A A H D K E E A A N R V Q V T p.860
. . . . . . g.337711
AGCCAAGAGTACTCGGCCAGGCTCGAGAACCTTCTGCCAGACACCCAGTATTTTATAGAA c.2640
S Q E Y S A R L E N L L P D T Q Y F I E p.880
. . . . . . g.337771
GTCGGGGCCTGCAATAGTGCAGGGTGTGGACCTCCAAGTGACATGATTGAGGCTTTCACC c.2700
V G A C N S A G C G P P S D M I E A F T p.900
. | 22 . . . . . g.340351
AAGAAAGCAC | CTCCTAGCCAGCCTCCAAGGATCATCAGTTCAGTAAGGTCTGGTTCACGC c.2760
K K A P | P S Q P P R I I S S V R S G S R p.920
. . . . . . g.340411
TATATAATCACCTGGGATCATGTCGTTGCACTATCAAATGAATCTACAGTGACGGGATAT c.2820
Y I I T W D H V V A L S N E S T V T G Y p.940
| 23 . . . . . . g.341564
AAG | GTACTCTACAGACCTGATGGCCAGCATGATGGCAAGCTGTATTCAACTCACAAACAC c.2880
K | V L Y R P D G Q H D G K L Y S T H K H p.960
. . . . . . g.341624
TCCATAGAAGTCCCAATCCCCAGAGATGGAGAATACGTTGTGGAGGTTCGCGCGCACAGT c.2940
S I E V P I P R D G E Y V V E V R A H S p.980
. . . . | 24 . . g.382423
GATGGAGGAGATGGAGTGGTGTCTCAAGTCAAAATTTCAG | GTGCACCCACCCTATCCCCA c.3000
D G G D G V V S Q V K I S G | A P T L S P p.1000
. . . . . g.382480
AGTCTTCTCGGCTTACTGCTGCCTGCCTTTGGCATCCTTGTCTACTTGGAATTCTGA c.3057
S L L G L L L P A F G I L V Y L E F X p.1018
. . . . . . g.382540
atgtgttgtgacagctgctgttcccatcccagctcagaagacacccttcaaccctgggat c.*60
. . . . . . g.382600
gaccacaattccttccaatttctgcggctccatcctaagccaaataaattatactttaac c.*120
. . . . . . g.382660
aaactattcaactgatttacaacacacatgatgactgaggcattcgggaaccccttcatc c.*180
. . . . . . g.382720
caaaagaataaacttttaaatggatataaatgatttttaactcgttccaatatgccttat c.*240
. . . . . . g.382780
aaaccacttaacctgattctgtgacagttgcatgatttaacccaatgggacaagttacag c.*300
. . . . . . g.382840
tgttcaattcaatactataggctgtagagtgaaagtcaaatcaccatatacaggtgcttt c.*360
. . . . . . g.382900
aaatttaataacaagttgtgaaatataatagagattgaaatgttggttgtatgtggtaaa c.*420
. . . . . . g.382960
tgtaagagtaatacagtctcttgtactttcctcactgttttgggtactgcatattattga c.*480
. . . . . . g.383020
atggcccctatcattcatgacatcttgagttttcttgaaaagacaatagagtgtaacaaa c.*540
. . . . . . g.383080
tattttgtcagaaatcccattatcaaatcatgagttgaaagattttgactattgaaaacc c.*600
. . . . . . g.383140
aaattctagaacttactatcagtattcttattttcaaaggaaataattttctaaatattt c.*660
. . . . . . g.383200
gattttcagaatcagttttttaatagtaaagttaacataccatatagatttttttttact c.*720
. . . . . . g.383260
tttatattctactctgaagttattttatgcttttcttatcaatttcaaatctcaaaaatc c.*780
. . . . . . g.383320
acagctcttatctagagtatcataatattgctatatttgttcatatgtggagtgacaaat c.*840
. . . . . . g.383380
tttgaaaagtagagtgcttccttttttattgagatgtgacagtctttacatggttaggaa c.*900
. . . . . . g.383440
taagtgacagttaagtgaatatcacaattactagtatgttggtttttctgcttcattcct c.*960
. . . . . . g.383500
aagtattacgtttctttattgcagatgtcagatcaaaaagtcacctgtaggttgaaaaag c.*1020
. . . . . . g.383560
ctaccgtattccattttgtaaaaataacaataataataataataataattagttttaagc c.*1080
. . . . . . g.383620
tcatttcccacttcaatgcaatactgaaaactggctaaaaataccaaatcaatatactgc c.*1140
. . . . . . g.383680
taatggtactttgaagagtatgcaaaactggaaggccaggaggaggcaaataatatgtct c.*1200
. . . . . . g.383740
ttccgatggtgtctcccaagtgttggtgctttgggtttttataagttgtgaaaaggaaga c.*1260
. . . . . . g.383800
tgcacatttcttcattctccatggtgtgcatggaaatgtgtttgagtgtggatgtaaaag c.*1320
. . . . . . g.383860
aaatcgagtaataaagaattagctggcttgtgaaatagtgcagtgttggatgcttcaaga c.*1380
. . . . . . g.383920
ggtataatcctattttattagcacaaacttgctagctaattagagtttatctttttagaa c.*1440
. . . . . . g.383980
aggacaccgtataggttcgtaaaaaatatttacaggaagcaaaatagatctattactact c.*1500
. . . . . . g.384040
ttaccgactttaccccctttctttaatttgtataatttttgtactatatatcgatgtgta c.*1560
. . . . . . g.384100
aatgtttagagtcttcattatgaaaatatcaataaatatttcattagtttacatttaact c.*1620
. . . . . . g.384160
ctggtataaaatgaaacttttaaaaataagtgaaatggatgatttcccagtggaagtatg c.*1680
. . . . . . g.384220
tcaacagtcttaagatcattgccagatttcataaaatatttaagtatttgaaaaagaaac c.*1740
. . . . . . g.384280
aaaatgtcttcatactttagggaaacgaataccctgtataccttctgtacaaatgtttgt c.*1800
. . . . . . g.384340
gttttcattgttacactttggggttttacttttgcaatgtgacccatgttgggcattttt c.*1860
. . . . . . g.384400
atataatcaacaactaaatcttttgccaaatgcatgcttgccttttattttctaatatat c.*1920
. . . . . . g.384460
gataataacgagcaaaactggttagattttgcatgaaatggttctgaaaggtaagaggaa c.*1980
. . . . . . g.384520
aacagactttggaggttgtttagttttgaatttctgacagagataaagtagtttaaaatc c.*2040
. . . . . . g.384580
tctcgtacactgataactcaagcttttcattttctcatacagttgtacagatttaactgg c.*2100
. . . . . . g.384640
gaccatcagttttaaactgttgtcaagctaactaataatcatctgctttaagacgcaaga c.*2160
. . . . . . g.384700
ttctgaattaaactttatataggtatagatacatctgttgtttctttgtatttcaggaaa c.*2220
. . . . . . g.384760
ggtgatagtagttttatttgatactgataaatattgaattgattttttagttatttttta c.*2280
. . . . . . g.384820
tcattttttcaatggagtagtataggactgtgctttgtcctttttatgaatgaaaaaatt c.*2340
. . . g.384857
agtataaagtaataaatgtcttatgttacccaagaaa c.*2377
(downstream sequence)
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