(used for mutation description)
(last modified March 21, 2010)
This file was created to facilitate the description of sequence variants in the VCP gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007887.1, covering VCP transcript NM_007126.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . g.5029
gtgatctgcgggttgctggggagaggcgc c.-361
. . . . . . g.5089
ggagaggcgggcgagagtccgcagggcaggcgctgattggctgaggtgggagcagcttcc c.-301
. . . . . . g.5149
cttccgatgattcggctcttctcggctcagtctcagcgaagcgtctgcgaccgtcgtttg c.-241
. . . . . . g.5209
agtcgtcgctgccgctgccgctgccactgccactgccacctcgcggatcaggagccagcg c.-181
. . . . . . g.5269
ttgttcgcccgacgcctcgctgccggtgggaggaagcgagagggaagccgcttgcgggtt c.-121
. . . . . . g.5329
tgtcgccgctgctcgcccaccgcctggaagagccgagccccggcccagtcggtcgcttgc c.-61
. . . . . . g.5389
caccgctcgtagccgttacccgcgggccgccacagccgccggccgggagaggcgcgcgcc c.-1
. | 02. . . . . g.9423
ATGGCTTCTGGAGCCGA | TTCAAAAGGTGATGACCTATCAACAGCCATTCTCAAACAGAAG c.60
M A S G A D | S K G D D L S T A I L K Q K p.20
. . . . . . g.9483
AACCGTCCCAATCGGTTAATTGTTGATGAAGCCATCAATGAGGACAACAGTGTGGTGTCC c.120
N R P N R L I V D E A I N E D N S V V S p.40
| 03 . . . . . g.9730
TTGTCCCAG | CCCAAGATGGATGAATTGCAGTTGTTCCGAGGTGACACAGTGTTGCTGAAA c.180
L S Q | P K M D E L Q L F R G D T V L L K p.60
. . . . . . g.9790
GGAAAGAAGAGACGAGAAGCTGTTTGCATCGTCCTTTCTGATGATACTTGTTCTGATGAG c.240
G K K R R E A V C I V L S D D T C S D E p.80
. . . . . . g.9850
AAGATTCGGATGAATAGAGTTGTTCGGAATAACCTTCGTGTACGCCTAGGGGATGTCATC c.300
K I R M N R V V R N N L R V R L G D V I p.100
| 04 . . . . . . g.10983
AG | CATCCAGCCATGCCCTGATGTGAAGTACGGCAAACGTATCCATGTGCTGCCCATTGAT c.360
S | I Q P C P D V K Y G K R I H V L P I D p.120
. . . . . . g.11043
GACACAGTGGAAGGCATTACTGGTAATCTCTTCGAGGTATACCTTAAGCCGTACTTCCTG c.420
D T V E G I T G N L F E V Y L K P Y F L p.140
. . | 05 . . . . g.12396
GAAGCGTATCGACCCATCCGGAAAG | GAGACATTTTTCTTGTCCGTGGTGGGATGCGTGCT c.480
E A Y R P I R K G | D I F L V R G G M R A p.160
. . . . . . g.12456
GTGGAGTTCAAAGTGGTGGAAACAGATCCTAGCCCTTATTGCATTGTTGCTCCAGACACA c.540
V E F K V V E T D P S P Y C I V A P D T p.180
. . . | 06 . . . g.13481
GTGATCCACTGCGAAGGGGAGCCTATCAAACGAGAG | GATGAGGAAGAGTCCTTGAATGAA c.600
V I H C E G E P I K R E | D E E E S L N E p.200
. . . . . . g.13541
GTAGGGTATGATGACATTGGTGGCTGCAGGAAGCAGCTAGCTCAGATAAAGGAGATGGTG c.660
V G Y D D I G G C R K Q L A Q I K E M V p.220
. . . . | 07 . g.14674
GAACTGCCCCTGAGACATCCTGCCCTCTTTAAGGCAATTGGTGTGAAG | CCTCCTAGAGGA c.720
E L P L R H P A L F K A I G V K | P P R G p.240
. . . . . . g.14734
ATCCTGCTTTACGGACCTCCTGGAACAGGAAAGACCCTGATTGCTCGAGCTGTAGCAAAT c.780
I L L Y G P P G T G K T L I A R A V A N p.260
. . . | 08 . . . g.15421
GAGACTGGAGCCTTCTTCTTCTTGATCAATG | GTCCTGAGATCATGAGCAAATTGGCTGGT c.840
E T G A F F F L I N G | P E I M S K L A G p.280
. . . . . . g.15481
GAGTCTGAGAGCAACCTTCGTAAAGCCTTTGAGGAGGCTGAGAAGAATGCTCCTGCCATC c.900
E S E S N L R K A F E E A E K N A P A I p.300
. . . . | 09 . . g.15619
ATCTTCATTGATGAGCTAGATGCCATCGCTCCCAAAAGAGAGAAA | ACTCATGGCGAGGTG c.960
I F I D E L D A I A P K R E K | T H G E V p.320
. . . . . . g.15679
GAGCGGCGCATTGTATCACAGTTGTTGACCCTCATGGATGGCCTAAAGCAGAGGGCACAT c.1020
E R R I V S Q L L T L M D G L K Q R A H p.340
. . . . . . g.15739
GTGATTGTTATGGCAGCAACCAACAGACCCAACAGCATTGACCCAGCTCTACGGCGATTT c.1080
V I V M A A T N R P N S I D P A L R R F p.360
| 10 . . . . . . g.16112
G | GTCGCTTTGACAGGGAGGTAGATATTGGAATTCCTGATGCTACAGGACGCTTAGAGATT c.1140
G | R F D R E V D I G I P D A T G R L E I p.380
. . . . . | 11 . g.16569
CTTCAGATCCATACCAAGAACATGAAGCTGGCAGATGATGTGGACCTGGAACAG | GTAGCC c.1200
L Q I H T K N M K L A D D V D L E Q | V A p.400
. . . . . . g.16629
AATGAGACTCACGGGCATGTGGGTGCTGACTTAGCAGCCCTGTGCTCAGAGGCTGCTCTG c.1260
N E T H G H V G A D L A A L C S E A A L p.420
. . . . . . g.16689
CAAGCCATCCGCAAGAAGATGGATCTCATTGACCTAGAGGATGAGACCATTGATGCCGAG c.1320
Q A I R K K M D L I D L E D E T I D A E p.440
. . . | 12 . . g.16840
GTCATGAACTCTCTAGCAGTTACTATGGATGACTTCCGG | TGGGCCTTGAGCCAGAGTAAC c.1380
V M N S L A V T M D D F R | W A L S Q S N p.460
. . . . . . g.16900
CCATCAGCACTGCGGGAAACCGTGGTAGAGGTGCCACAGGTAACCTGGGAAGACATCGGG c.1440
P S A L R E T V V E V P Q V T W E D I G p.480
. . . . | 13 . . g.17235
GGCCTAGAGGATGTCAAACGTGAGCTACAGGAGCTGGTCCAG | TATCCTGTGGAGCACCCA c.1500
G L E D V K R E L Q E L V Q | Y P V E H P p.500
. . . . . . g.17295
GACAAATTCCTGAAGTTTGGCATGACACCTTCCAAGGGAGTTCTGTTCTATGGACCTCCT c.1560
D K F L K F G M T P S K G V L F Y G P P p.520
. . . . . . g.17355
GGCTGTGGGAAAACTTTGTTGGCCAAAGCCATTGCTAATGAATGCCAGGCCAACTTCATC c.1620
G C G K T L L A K A I A N E C Q A N F I p.540
. . . . . . g.17415
TCCATCAAGGGTCCTGAGCTGCTCACCATGTGGTTTGGGGAGTCTGAGGCCAATGTCAGA c.1680
S I K G P E L L T M W F G E S E A N V R p.560
. | 14 . . . . . g.17986
GAAATCTTTGACAAG | GCCCGCCAAGCTGCCCCCTGTGTGCTATTCTTTGATGAGCTGGAT c.1740
E I F D K | A R Q A A P C V L F F D E L D p.580
. . . . . . g.18046
TCGATTGCCAAGGCTCGTGGAGGTAACATTGGAGATGGTGGTGGGGCTGCTGACCGAGTC c.1800
S I A K A R G G N I G D G G G A A D R V p.600
. . . . . . g.18106
ATCAACCAGATCCTGACAGAAATGGATGGCATGTCCACAAAAAAAAATGTGTTCATCATT c.1860
I N Q I L T E M D G M S T K K N V F I I p.620
. . . . . . g.18166
GGCGCTACCAACCGGCCTGACATCATTGATCCTGCCATCCTCAGACCTGGCCGTCTTGAT c.1920
G A T N R P D I I D P A I L R P G R L D p.640
. . . . . . g.18226
CAGCTCATCTACATCCCACTTCCTGATGAGAAGTCCCGTGTTGCCATCCTCAAGGCTAAC c.1980
Q L I Y I P L P D E K S R V A I L K A N p.660
. . | 15 . . . . g.18559
CTGCGCAAGTCCCCAGTTGCCAAG | GATGTGGACTTGGAGTTCCTGGCTAAAATGACTAAT c.2040
L R K S P V A K | D V D L E F L A K M T N p.680
. . . . . . g.18619
GGCTTCTCTGGAGCTGACCTGACAGAGATTTGCCAGCGTGCTTGCAAGCTGGCCATCCGT c.2100
G F S G A D L T E I C Q R A C K L A I R p.700
. . . . . . g.18679
GAATCCATCGAGAGTGAGATTAGGCGAGAACGAGAGAGGCAGACAAACCCATCAGCCATG c.2160
E S I E S E I R R E R E R Q T N P S A M p.720
| 16 . . . . . . g.20272
| GAGGTAGAAGAGGATGATCCAGTGCCTGAGATCCGTCGAGATCACTTTGAAGAAGCCATG c.2220
| E V E E D D P V P E I R R D H F E E A M p.740
. . . . . . g.20332
CGCTTTGCGCGCCGTTCTGTCAGTGACAATGACATTCGGAAGTATGAGATGTTTGCCCAG c.2280
R F A R R S V S D N D I R K Y E M F A Q p.760
. . . | 17 . . . g.20545
ACCCTTCAGCAGAGTCGGGGCTTTGGCAGCTTCAG | ATTCCCTTCAGGGAACCAGGGTGGA c.2340
T L Q Q S R G F G S F R | F P S G N Q G G p.780
. . . . . . g.20605
GCTGGCCCCAGTCAGGGCAGTGGAGGCGGCACAGGTGGCAGTGTATACACAGAAGACAAT c.2400
A G P S Q G S G G G T G G S V Y T E D N p.800
. . g.20626
GATGATGACCTGTATGGCTAA c.2421
D D D L Y G X p.806
. . . . . . g.20686
gtggtggtggccagcgtgcagtgagctggcctgcctggaccttgttccctgggggtgggg c.*60
. . . . . . g.20746
gcgcttgcccaggagagggaccaggggtgcgcccacagcctgctccattctccagtctga c.*120
. . . . . . g.20806
acagttcagctacagtctgactctggacagggggtttctgttgcaaaaatacaaaacaaa c.*180
. . . . . . g.20866
agcgataaaataaaagcgattttcatttggtaggcggagagtgaattaccaacagggaat c.*240
. . . . . . g.20926
tgggccttgggcctatgccatttctgttgtagtttggggcagtgcaggggacctgtgtgg c.*300
. . . . . . g.20986
ggtgtgaaccaaggcactactgccacctgccacagtaaagcatctgcacttgactcaatg c.*360
. . . . . . g.21046
ctgcccgagccctcccttccccctatccaacctgggtaggtgggtaggggccacagttgc c.*420
. . . . . . g.21106
tggatgtttatatagagagtaggttgatttattttacatgcttttgagttaatgttggaa c.*480
. . . . . . g.21166
aactaatcacaagcagtttctaaaccaaaaaatgacatgttgtaaaaggacaataaacgt c.*540
. . . . . . g.21226
tgggtcaaaatggagcctgagtcctgggccctgtgcctgcttcttttcctgggaacagcc c.*600
. . . . . . g.21286
ttgggctacccaccactcccaaggcattcttccaaatgtgaaatcctggaagtaagattg c.*660
. . . . . . g.21346
caccttcttcctctcctgatcaacatcggtatgatgtctcctgttgcctcaccctttgtc c.*720
. . . . . . g.21406
tgcagtatcactggataggactggtggaaagggagcagcctgacagagctccaaatgtgg c.*780
. . . . . . g.21466
agaatatggcatccctccacctatatttgatgtggacggtaaggctaggcctgcaggatc c.*840
. . . . . . g.21526
ccttatcctgaccaaagactgtgttggggtgccatttgaaaatcgcagggttgcaaaaga c.*900
. . . . . . g.21586
atacaatcttacttgcaggtggatattctctatactctcttttaatgcatctaaaaatcc c.*960
. . . . . . g.21646
caaacatcccctggttggtgatcacttacagttgtgtccacctttattttatgtactttg c.*1020
. . g.21675
attaaaaaaaaaaaactttttgttaatat c.*1049
(downstream sequence)
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