(used for mutation description)
(last modified January 17, 2013)
This file was created to facilitate the description of sequence variants in the TRAPPC11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033102.1, covering TRAPPC11 transcript NM_021942.5.
(upstream sequence)
. . g.5022
aaagtgcttcctgtgccggggg c.-181
. . . . . . g.5082
aggtgggtacagggaagtctcgcctgttggaactggctgtggggctgcggcggtggggac c.-121
. . . . . . g.5142
gggccacggcgttctgtgacatccccccgcctcccctcgtcttctcccggctggcggcga c.-61
. . . . | 02 . g.9601
ccggcctcagctgcagcgggcccggggcgtggggcctgg | gttttttgtgacatcgtaaac c.-1
. . . . . . g.9661
ATGAGCCCCACACAGTGGGACTTCCCTGTGGAATTATGTTGCCGGCCTATGGCCTTTGTT c.60
M S P T Q W D F P V E L C C R P M A F V p.20
. . . . . . g.9721
ACTCTAACGGGCCTGGATGTAGTTTATAATGCAGTCCATCGAGCTGTCTGGGACGCCTTC c.120
T L T G L D V V Y N A V H R A V W D A F p.40
. . . . . . g.9781
TGTGCAAATCGGAGAGCTGATCGAGTACCAATTTCTTTCAAGGTGCTCCCAGGTGACCAT c.180
C A N R R A D R V P I S F K V L P G D H p.60
. . | 03 . . . . g.12026
GAGTATCCCAAATGTAGACCCAAG | AGAACTTCATATGAGTGGTACATTCCTAAAGGGATC c.240
E Y P K C R P K | R T S Y E W Y I P K G I p.80
. . . . . . g.12086
TTAAAGACTGGCTGGATGAATAAGCATCTGAATCTGGTGCCAGCCCTGGTGGTTGTGTTC c.300
L K T G W M N K H L N L V P A L V V V F p.100
. . . . . . g.12146
TATGAACTGGACTGGGATGAGCCTCAGTGGAAAGAAAAGCAGTCTGAGTGCGCCACCAGA c.360
Y E L D W D E P Q W K E K Q S E C A T R p.120
. | 04 . . . . . g.12839
GTGGAAATAGTCAG | GCAAAGTTTACAAGGAAGAAACACAAAAGTTGCAGTGGTTCTGATT c.420
V E I V R | Q S L Q G R N T K V A V V L I p.140
. . | 05 . . . . g.13771
CAGAAGAAAACCCCTTTGCCCCCAG | GAGAAGATGTCATTGCTTCAGAAAGGGCTGCAGCT c.480
Q K K T P L P P G | E D V I A S E R A A A p.160
. . . . . . g.13831
TTATGCAATGCATGTGAACTCTCAGGAAAGTCTTTGTTTGTACTGCCGCACACTGACCAC c.540
L C N A C E L S G K S L F V L P H T D H p.180
. . | 06 . . . . g.20486
CTTGTGGGTTATATTATAAG | ATTGGAAAATGCCTTTTATGAACATGCACAGACTTATTAC c.600
L V G Y I I R | L E N A F Y E H A Q T Y Y p.200
. . . . . . g.20546
TACACTGAGATCAGAAGAGTGAAATCTCATAAAGAATTTTTGAATAAAACAACACACCAG c.660
Y T E I R R V K S H K E F L N K T T H Q p.220
| 07 . . . . . . g.20957
| CTTTTATTTGTTAGGCATCAGTTCAAAATAGCTTTCTTCAGTGAGTTGAAACAAGATACA c.720
| L L F V R H Q F K I A F F S E L K Q D T p.240
. | 08 . . . . . g.23237
CAAAATGCGCTGAA | GAATTATAGGACCGCCTATAATCTTGTACACGAATTGAGAGCCCAT c.780
Q N A L K | N Y R T A Y N L V H E L R A H p.260
. . . . . | 09 . g.25095
GAAACTAATATTCTGGAAATTAAGACTATGGCAGGATTTATAAACTACAAG | ATCTGTAGG c.840
E T N I L E I K T M A G F I N Y K | I C R p.280
. . . . . . g.25155
CTGTGTTTTCAACACAACACCCCATTGGATGCAATTGCTCAGTTCCGAAAACACATCGAC c.900
L C F Q H N T P L D A I A Q F R K H I D p.300
. . . . . . g.25215
TTGTGTAAGAAAAAGATTGGAAGTGCAGAGCTGTCTTTTGAGCATGATGCATGGATGTCT c.960
L C K K K I G S A E L S F E H D A W M S p.320
| 10 . . . . . . g.25908
AAACA | ATTCCAGGCCTTTGGAGATTTATTTGATGAAGCTATTAAGTTAGGGTTAACAGCT c.1020
K Q | F Q A F G D L F D E A I K L G L T A p.340
. . . . . . g.25968
ATTCAAACTCAGAATCCTGGTTTCTATTACCAGCAGGCAGCATACTATGCCCAGGAGCGG c.1080
I Q T Q N P G F Y Y Q Q A A Y Y A Q E R p.360
. . . | 11 . . . g.28492
AAACAGCTTGCAAAAACCCTCTGTAACCACGAA | GCTTCTGTAATGTATCCCAATCCTGAT c.1140
K Q L A K T L C N H E | A S V M Y P N P D p.380
. . . . . . g.28552
CCCTTAGAAACACAAACAGGCGTTCTTGACTTTTATGGACAAAGATCATGGCGACAAGGA c.1200
P L E T Q T G V L D F Y G Q R S W R Q G p.400
| 12. . . . . . g.29761
ATACTAA | GTTTTGATCTTTCTGATCCTGAAAAAGAAAAGGTGGGAATTCTTGCCATTCAG c.1260
I L S | F D L S D P E K E K V G I L A I Q p.420
. . | 13. . . . g.29911
CTGAAGGAGAGAAATGTTGTTCACTCT | GAGATAATCATAACTCTTCTGAGCAATGCTGTT c.1320
L K E R N V V H S | E I I I T L L S N A V p.440
. . . . | 14 . . g.30052
GCACAGTTCAAGAAGTATAAGTGCCCGCGAATGAAAAGTCACCTAA | TGGTTCAGATGGGA c.1380
A Q F K K Y K C P R M K S H L M | V Q M G p.460
. . . . | 15 . . g.30448
GAGGAATATTATTACGCAAAGGATTATACCAAAGCTTTGAA | GTTGCTGGATTATGTGATG c.1440
E E Y Y Y A K D Y T K A L K | L L D Y V M p.480
. . . . . . g.30508
TGTGATTATCGGAGTGAAGGATGGTGGACTCTGCTCACTTCTGTATTAACTACAGCTCTG c.1500
C D Y R S E G W W T L L T S V L T T A L p.500
. . . . . . g.30568
AAGTGCTCCTACCTCATGGCCCAATTAAAGGATTACATTACTTACTCCCTAGAACTCCTT c.1560
K C S Y L M A Q L K D Y I T Y S L E L L p.520
| 16. . . . . . g.30870
GGTAGAG | CTTCAACTCTGAAAGATGACCAGAAGTCTCGGATAGAAAAGAACCTCATAAAT c.1620
G R A | S T L K D D Q K S R I E K N L I N p.540
| 17 . . . . . g.31055
GTTTTAATG | AATGAAAGTCCTGATCCAGAACCCGACTGTGATATCTTAGCTGTGAAAACT c.1680
V L M | N E S P D P E P D C D I L A V K T p.560
. . . . . . g.31115
GCTCAGAAGCTGTGGGCAGACCGAATTTCTCTGGCTGGCAGCAATATTTTCACAATAGGA c.1740
A Q K L W A D R I S L A G S N I F T I G p.580
. . | 18 . . . . g.32389
GTACAGGACTTTGTGCCATTTG | TGCAGTGCAAAGCCAAGTTTCATGCCCCAAGTTTTCAT c.1800
V Q D F V P F V | Q C K A K F H A P S F H p.600
. . . . . . g.32449
GTTGATGTTCCTGTTCAGTTTGATATTTATCTGAAGGCTGATTGTCCACATCCCATTAGG c.1860
V D V P V Q F D I Y L K A D C P H P I R p.620
. . . | 19 . . . g.37076
TTTTCCAAGCTCTGTGTCAGCTTTAATAATCAG | GAATACAACCAGTTCTGTGTAATAGAA c.1920
F S K L C V S F N N Q | E Y N Q F C V I E p.640
. . . . . . g.37136
GAAGCATCCAAAGCAAATGAAGTTTTAGAAAATCTGACTCAAGGAAAGATGTGCCTAGTT c.1980
E A S K A N E V L E N L T Q G K M C L V p.660
. . . . . . g.37196
CCTGGCAAAACAAGAAAACTGTTATTTAAGTTTGTTGCAAAAACTGAAGATGTGGGAAAG c.2040
P G K T R K L L F K F V A K T E D V G K p.680
| 20 . . . . . g.38744
AAAATTGAG | ATTACTTCAGTGGATCTTGCTCTGGGCAATGAGACGGGAAGATGTGTGGTT c.2100
K I E | I T S V D L A L G N E T G R C V V p.700
. . . . . . g.38804
TTAAATTGGCAGGGAGGAGGAGGAGATGCTGCTTCCTCCCAAGAAGCCTTACAGGCAGCT c.2160
L N W Q G G G G D A A S S Q E A L Q A A p.720
. . . . . . g.38864
CGGTCTTTCAAAAGGCGACCTAAGCTACCTGACAATGAAGTTCACTGGGACAGCATTATA c.2220
R S F K R R P K L P D N E V H W D S I I p.740
. | 21. . . . . g.39365
ATTCAGGCAAGCACAAT | GATCATATCCAGAGTCCCAAACATTTCTGTACATCTGCTACAT c.2280
I Q A S T M | I I S R V P N I S V H L L H p.760
. . . . . . g.39425
GAACCCCCTGCACTGACTAATGAAATGTATTGTTTGGTTGTGACTGTTCAGTCCCATGAA c.2340
E P P A L T N E M Y C L V V T V Q S H E p.780
. . . . | 22 . . g.39664
AAGACCCAAATCAGAGATGTGAAGCTCACCGCTGGCTTAAAACCAG | GACAGGATGCCAAT c.2400
K T Q I R D V K L T A G L K P G | Q D A N p.800
. . . . . . g.39724
TTAACTCAGAAGACTCACGTGACTCTTCATGGAACAGAACTGTGTGATGAATCCTACCCG c.2460
L T Q K T H V T L H G T E L C D E S Y P p.820
. . . . | 23 . g.40349
GCTTTACTCACTGACATTCCTGTTGGAGACTTACATCCAGGGGAACAG | CTGGAAAAAATG c.2520
A L L T D I P V G D L H P G E Q | L E K M p.840
. . . . . . g.40409
TTGTATGTTCGCTGTGGAACAGTGGGTTCCAGAATGTTTCTTGTATATGTTTCTTACCTG c.2580
L Y V R C G T V G S R M F L V Y V S Y L p.860
. . . . | 24 . g.43248
ATAAATACAACCGTTGAAGAAAAAGAAATTGTTTGCAAGTGTCACAAG | GATGAAACTGTA c.2640
I N T T V E E K E I V C K C H K | D E T V p.880
. . . . . | 25 . g.43418
ACAATTGAAACAGTCTTTCCATTTGATGTTGCGGTTAAATTTGTTTCTACCAAG | TTTGAG c.2700
T I E T V F P F D V A V K F V S T K | F E p.900
. . . . . . g.43478
CACCTGGAAAGGGTTTATGCTGACATCCCCTTTCTGTTGATGACGGACCTCTTAAGTGCC c.2760
H L E R V Y A D I P F L L M T D L L S A p.920
. . . . . . g.43538
TCACCCTGGGCCCTCACTATTGTTTCCAGTGAGCTCCAGCTTGCTCCATCCATGACCACA c.2820
S P W A L T I V S S E L Q L A P S M T T p.940
. . . | 26 . . . g.47459
GTGGACCAGCTCGAGTCTCAAGTGGACAATG | TTATCTTACAGACTGGAGAGAGTGCTAGT c.2880
V D Q L E S Q V D N V | I L Q T G E S A S p.960
. . . . . . g.47519
GAATGCTTTTGTCTTCAATGCCCATCTCTTGGAAATATTGAAGGTGGAGTAGCAACCGGG c.2940
E C F C L Q C P S L G N I E G G V A T G p.980
. . | 27 . . . . g.50749
CATTATATTATCTCTTGGAAAAG | GACCTCAGCAATGGAGAATATCCCCATCATCACAACT c.3000
H Y I I S W K R | T S A M E N I P I I T T p.1000
. . . . . | 28 . g.52545
GTCATCACTCTGCCGCACGTGATTGTGGAGAATATCCCTCTCCATGTGAATGCAG | ATCTG c.3060
V I T L P H V I V E N I P L H V N A D | L p.1020
. . . . . . g.52605
CCGTCATTTGGGCGTGTCAGAGAGTCGTTACCTGTCAAGTATCACCTACAGAATAAGACC c.3120
P S F G R V R E S L P V K Y H L Q N K T p.1040
. . . . . . g.52665
GACTTAGTTCAAGATGTAGAAATTTCTGTGGAGCCCAGTGATGCCTTCATGTTCTCAGGT c.3180
D L V Q D V E I S V E P S D A F M F S G p.1060
| 29 . . . . . g.54191
CTCAAACAG | ATTCGATTACGTATCCTCCCTGGCACGGAGCAGGAAATGCTATATAATTTC c.3240
L K Q | I R L R I L P G T E Q E M L Y N F p.1080
. . . . . . g.54251
TATCCTCTGATGGCTGGATACCAGCAGCTGCCATCTCTCAACATCAACTTGCTTAGATTT c.3300
Y P L M A G Y Q Q L P S L N I N L L R F p.1100
. . . . . | 30. g.58336
CCTAACTTCACAAATCAGCTGCTCAGGCGTTTTATACCTACCAGTATTTTTGTCAAG | CCA c.3360
P N F T N Q L L R R F I P T S I F V K | P p.1120
. . . . g.58378
CAGGGTCGACTCATGGATGATACCTCTATTGCTGCTGCATGA c.3402
Q G R L M D D T S I A A A X p.1133
. . . . . . g.58438
tgttcaagaccggcccttggctgttgttacagagatgttgggcagagctatgcaggtgtt c.*60
. . . . . . g.58498
tcattgtgaactctagctttgatcatggtaaaaagttaaccttttctattttttaatgga c.*120
. . . . . . g.58558
tgttataccaactattcagaggaactcatacttcaaaaatattaggaaaatctgtcttat c.*180
. . . . . . g.58618
agtttctctaataaatatctgaaatctcagtacgacatgaaagaatgtcagaccattgtt c.*240
. . . . . . g.58678
attgttgaaagtcatttgatgaatggtaaattctatgaaaagtaagtgatttgcatgtat c.*300
. . . . . . g.58738
aatatcaggaaaattaagcatcccaagtgtgactggacaaagagagcagatgcaccagtg c.*360
. . . . . . g.58798
cctgtgccataaagttccgaatcccccatgtgtctctttcagagctggccagaccggaaa c.*420
. . . . . . g.58858
taaatcattctcataaattcagtgtgtactcagaacacatacacaacaacatagggagtt c.*480
. . . . . . g.58918
gtatgactgatacggaaaacttccagaaagttttaatcaaagcagtttaattaaggtatc c.*540
. . . . . . g.58978
aaaaatatctttgcttactatcaagaagtgtcaaataggttcagcttgctgccaaaatat c.*600
. . . . . . g.59038
ggatcatttatgaagcaggttcatattttagaggtgttaataaaatcctcatcggaaaag c.*660
. . . . . . g.59098
atccaaagtgcaaggatttgattataaacataatttcctagactgaaagtttttggaaaa c.*720
. . . . . . g.59158
gatgcagggtctgagtcaggccttctggttatattgtgcagtttcaaaagaactatttaa c.*780
. . . . . . g.59218
aactcttgaaaactcatgtaaataaaaatcatagggtgaaaattgtatttgttaaaatac c.*840
. . . . . . g.59278
cttaataatttaaaatgacctgatttcctggaaaattttattattcaaaaggtggaggca c.*900
. . . . . g.59328
ttgtaaaaaggaaatagtgatgtaaataaacatgttctctttcaagtatg c.*950
(downstream sequence)
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