(used for variant description)
(last modified June 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_014000.2 in the VCL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008868.1, covering VCL transcript NM_014000.2.
(upstream sequence)
. . . g.5034
gtagtcgctgcacagtctgtctcttcgccggttc c.-61
. . . . . . g.5094
ccggccccgtggatcctacttctctgtcgcccgcggttcgccgccccgctcgccgccgcg c.-1
. . . . . . g.5154
ATGCCAGTGTTTCATACGCGCACGATCGAGAGCATCCTGGAGCCGGTGGCACAGCAGATC c.60
M P V F H T R T I E S I L E P V A Q Q I p.20
. . . . . . g.5214
TCCCACCTGGTGATAATGCACGAGGAGGGCGAGGTGGACGGCAAAGCCATTCCTGACCTC c.120
S H L V I M H E E G E V D G K A I P D L p.40
. . . . | 02 . g.49981
ACCGCGCCCGTGGCCGCCGTGCAGGCGGCCGTCAGCAACCTCGTCCGG | GTTGGAAAAGAG c.180
T A P V A A V Q A A V S N L V R | V G K E p.60
. . . . . | 03 g.77557
ACTGTTCAAACCACTGAGGATCAGATTTTGAAGAGAGATATGCCACCAGCATTTATTAA | G c.240
T V Q T T E D Q I L K R D M P P A F I K | p.80
. . . . . . g.77617
GTTGAGAATGCTTGCACCAAGCTTGTCCAGGCAGCTCAGATGCTTCAGTCAGACCCTTAC c.300
V E N A C T K L V Q A A Q M L Q S D P Y p.100
. . . . . . g.77677
TCAGTGCCTGCTCGAGATTATCTAATTGATGGGTCAAGGGGCATCCTCTCTGGAACATCA c.360
S V P A R D Y L I D G S R G I L S G T S p.120
. . . | 04 . . . g.77891
GACCTGCTCCTTACCTTCGATGAGGCTGAG | GTCCGTAAAATTATTAGAGTTTGCAAAGGA c.420
D L L L T F D E A E | V R K I I R V C K G p.140
. . . . . . g.77951
ATTTTGGAATATCTTACAGTGGCAGAGGTGGTGGAGACTATGGAAGATTTGGTCACTTAC c.480
I L E Y L T V A E V V E T M E D L V T Y p.160
. | 05 . . . . g.79657
ACAAAGAATCTTGGGCCAG | GAATGACTAAGATGGCCAAGATGATTGACGAGAGACAGCAG c.540
T K N L G P G | M T K M A K M I D E R Q Q p.180
. . . . . . g.79717
GAGCTCACTCACCAGGAGCACCGAGTGATGTTGGTGAACTCGATGAACACCGTGAAAGAG c.600
E L T H Q E H R V M L V N S M N T V K E p.200
. . | 06 . . . . g.81667
TTGCTGCCAGTTCTCATTTCAG | CTATGAAGATTTTTGTAACAACTAAAAACTCAAAAAAC c.660
L L P V L I S A | M K I F V T T K N S K N p.220
. . . . . . g.81727
CAAGGCATAGAGGAAGCTTTAAAAAATCGCAATTTTACTGTAGAAAAAATGAGTGCTGAA c.720
Q G I E E A L K N R N F T V E K M S A E p.240
. . . . . . g.81787
ATTAATGAGATAATTCGTGTGTTACAACTCACCTCTTGGGATGAAGATGCCTGGGCCAGC c.780
I N E I I R V L Q L T S W D E D A W A S p.260
| 07 . . . . . . g.89397
AAG | GACACTGAAGCCATGAAGAGAGCATTGGCCTCCATAGACTCCAAACTGAACCAGGCC c.840
K | D T E A M K R A L A S I D S K L N Q A p.280
. . . | 08 . . . g.90278
AAAGGTTGGCTCCGTGACCCTAGTGCCTCCCCAG | GGGATGCTGGTGAGCAGGCCATCAGA c.900
K G W L R D P S A S P G | D A G E Q A I R p.300
. . . . . . g.90338
CAGATCTTAGATGAAGCTGGAAAAGTTGGTGAACTCTGTGCAGGCAAAGAACGCAGGGAG c.960
Q I L D E A G K V G E L C A G K E R R E p.320
. . . . . . g.90398
ATTCTGGGAACTTGCAAAATGCTAGGGCAGATGACTGATCAAGTGGCTGACCTCCGTGCC c.1020
I L G T C K M L G Q M T D Q V A D L R A p.340
| 09 . . . . . . g.96140
AG | AGGACAAGGATCCTCACCGGTGGCCATGCAGAAAGCTCAGCAGGTATCTCAGGGTCTG c.1080
R | G Q G S S P V A M Q K A Q Q V S Q G L p.360
. . . . . . g.96200
GATGTGCTCACAGCAAAAGTGGAAAATGCAGCTCGCAAGCTGGAAGCCATGACCAACTCA c.1140
D V L T A K V E N A A R K L E A M T N S p.380
. . . | 10 . . . g.96933
AAGCAGAGCATTGCAAAGAAGATCGATGCTGCTCAG | AACTGGCTTGCAGATCCAAATGGT c.1200
K Q S I A K K I D A A Q | N W L A D P N G p.400
. . . . . . g.96993
GGACCGGAAGGAGAAGAGCAGATTCGAGGTGCTTTGGCTGAAGCTCGGAAAATAGCAGAA c.1260
G P E G E E Q I R G A L A E A R K I A E p.420
. . . . . . g.97053
TTATGTGATGATCCTAAAGAAAGAGATGACATTCTACGTTCCCTTGGGGAAATATCTGCT c.1320
L C D D P K E R D D I L R S L G E I S A p.440
. . . | 11 . . . g.101185
CTGACTTCTAAATTAGCAGATCTACGAAGACA | GGGGAAAGGAGATTCTCCAGAGGCTCGA c.1380
L T S K L A D L R R Q | G K G D S P E A R p.460
. . . . . . g.101245
GCCTTGGCCAAACAGGTGGCCACGGCCCTGCAGAACCTGCAGACCAAAACCAACCGGGCT c.1440
A L A K Q V A T A L Q N L Q T K T N R A p.480
. . . . . . g.101305
GTGGCCAACAGCAGACCGGCCAAAGCAGCTGTACACCTTGAGGGCAAGATTGAGCAAGCA c.1500
V A N S R P A K A A V H L E G K I E Q A p.500
. . . . | 12 . . g.102559
CAGCGGTGGATTGATAATCCCACAGTGGATGACCGTGGAGTCG | GTCAGGCTGCCATCCGG c.1560
Q R W I D N P T V D D R G V G | Q A A I R p.520
. . . . . . g.102619
GGGCTTGTGGCCGAAGGGCATCGTCTGGCTAATGTTATGATGGGGCCTTATCGGCAAGAT c.1620
G L V A E G H R L A N V M M G P Y R Q D p.540
. . . . . . g.102679
CTTCTCGCCAAGTGTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGACCTGGCTGCC c.1680
L L A K C D R V D Q L T A Q L A D L A A p.560
. . . . . . g.102739
AGAGGGGAAGGGGAGAGTCCTCAGGCACGAGCACTTGCATCTCAGCTCCAAGACTCCTTA c.1740
R G E G E S P Q A R A L A S Q L Q D S L p.580
| 13 . . . . . . g.104147
AAG | GATCTAAAAGCTCGGATGCAGGAGGCCATGACTCAGGAAGTGTCAGATGTTTTCAGC c.1800
K | D L K A R M Q E A M T Q E V S D V F S p.600
. . . . . . g.104207
GATACCACAACTCCCATCAAGCTGTTGGCAGTGGCAGCCACGGCGCCTCCTGATGCGCCT c.1860
D T T T P I K L L A V A A T A P P D A P p.620
. | 14 . . . . . g.107882
AACAGGGAAGAG | GTATTTGATGAGAGGGCAGCTAACTTTGAAAACCATTCAGGAAAGCTT c.1920
N R E E | V F D E R A A N F E N H S G K L p.640
. . . . . . g.107942
GGTGCTACGGCCGAGAAGGCGGCTGCGGTTGGTACTGCTAATAAATCAACAGTGGAAGGC c.1980
G A T A E K A A A V G T A N K S T V E G p.660
. . . . | 15 . . g.110724
ATTCAGGCCTCAGTGAAGACGGCCCGAGAACTCACACCCCAG | GTGGTCTCGGCTGCTCGT c.2040
I Q A S V K T A R E L T P Q | V V S A A R p.680
. . . . . . g.110784
ATCTTACTTAGGAACCCTGGAAATCAAGCTGCTTATGAACATTTTGAGACCATGAAGAAC c.2100
I L L R N P G N Q A A Y E H F E T M K N p.700
. . . | 16 . . . g.111966
CAGTGGATCGATAATGTTGAAAAAATGACAG | GGCTGGTGGACGAAGCCATTGATACCAAA c.2160
Q W I D N V E K M T G | L V D E A I D T K p.720
. . . . . . g.112026
TCTCTGTTGGATGCTTCAGAAGAAGCAATTAAAAAAGACCTGGACAAGTGCAAGGTAGCT c.2220
S L L D A S E E A I K K D L D K C K V A p.740
. . . . . . g.112086
ATGGCCAACATTCAGCCTCAGATGCTGGTTGCTGGGGCAACCAGTATTGCTCGTCGGGCC c.2280
M A N I Q P Q M L V A G A T S I A R R A p.760
. . . . . . g.112146
AACCGGATCCTGCTGGTGGCTAAGAGGGAGGTGGAGAATTCCGAGGATCCCAAGTTCCGT c.2340
N R I L L V A K R E V E N S E D P K F R p.780
. . . . . . g.112206
GAGGCTGTGAAAGCTGCCTCTGATGAATTGAGCAAAACCATCTCCCCGATGGTGATGGAT c.2400
E A V K A A S D E L S K T I S P M V M D p.800
. . . | 17 . . . g.114142
GCAAAAGCTGTGGCTGGAAACATTTCCGACCCTG | GACTGCAAAAGAGCTTCCTGGACTCA c.2460
A K A V A G N I S D P G | L Q K S F L D S p.820
. . . . . . g.114202
GGATATCGGATCCTGGGAGCTGTGGCCAAGGTCAGAGAAGCCTTCCAACCTCAGGAGCCT c.2520
G Y R I L G A V A K V R E A F Q P Q E P p.840
. . . | 18 . . g.115878
GACTTCCCGCCGCCTCCACCAGACCTTGAACAACTCCGA | CTAACAGATGAGCTTGCTCCT c.2580
D F P P P P P D L E Q L R | L T D E L A P p.860
. . . . . . g.115938
CCCAAACCACCTCTGCCTGAAGGTGAGGTCCCTCCACCTAGGCCTCCACCACCAGAGGAA c.2640
P K P P L P E G E V P P P R P P P P E E p.880
. . . . . . g.115998
AAGGATGAAGAGTTCCCTGAGCAGAAGGCCGGGGAGGTGATTAACCAGCCAATGATGATG c.2700
K D E E F P E Q K A G E V I N Q P M M M p.900
. . . . | 19 . . g.118810
GCTGCCAGACAGCTCCATGATGAAGCTCGCAAATGGTCCAGCAAG | CCGGGCATCCCAGCC c.2760
A A R Q L H D E A R K W S S K | P G I P A p.920
. . . . . . g.118870
GCTGAGGTGGGTATAGGTGTTGTAGCTGAGGCAGATGCGGCCGATGCTGCTGGCTTCCCT c.2820
A E V G I G V V A E A D A A D A A G F P p.940
. . . . . . g.118930
GTCCCCCCTGACATGGAAGACGATTACGAACCTGAGCTGCTGTTAATGCCATCCAATCAG c.2880
V P P D M E D D Y E P E L L L M P S N Q p.960
. . . . . . g.118990
CCGGTCAACCAGCCCATTCTGGCCGCGGCTCAGTCCTTGCATCGGGAAGCTACCAAGTGG c.2940
P V N Q P I L A A A Q S L H R E A T K W p.980
| 20 . . . . . g.121121
TCTAGTAAG | GGCAATGACATCATTGCAGCAGCCAAGCGCATGGCTCTGCTGATGGCTGAG c.3000
S S K | G N D I I A A A K R M A L L M A E p.1000
. . . . . . g.121181
ATGTCTCGGCTGGTAAGAGGGGGCAGTGGTACCAAGCGGGCACTCATTCAGTGTGCCAAG c.3060
M S R L V R G G S G T K R A L I Q C A K p.1020
. . . . . . g.121241
GACATCGCCAAGGCCTCAGATGAGGTGACTCGGTTGGCCAAGGAGGTTGCCAAGCAGTGC c.3120
D I A K A S D E V T R L A K E V A K Q C p.1040
. . . | 21 . . . g.121708
ACAGATAAACGGATTAGAACCAACCTCTTACAG | GTATGTGAGCGAATCCCAACCATAAGC c.3180
T D K R I R T N L L Q | V C E R I P T I S p.1060
. . . . . . g.121768
ACCCAGCTCAAAATCCTGTCCACAGTGAAGGCCACCATGCTGGGCCGGACCAACATCAGT c.3240
T Q L K I L S T V K A T M L G R T N I S p.1080
. | 22 . . . . g.124951
GATGAGGAGTCTGAGCAG | GCCACAGAGATGCTGGTTCACAATGCCCAGAACCTCATGCAG c.3300
D E E S E Q | A T E M L V H N A Q N L M Q p.1100
. . . . . . g.125011
TCTGTGAAGGAGACTGTGCGGGAAGCTGAAGCTGCTTCAATCAAAATTCGAACAGATGCT c.3360
S V K E T V R E A E A A S I K I R T D A p.1120
. . . . g.125056
GGATTTACACTGCGCTGGGTTAGAAAGACTCCCTGGTACCAGTAG c.3405
G F T L R W V R K T P W Y Q X p.1134
. . . . . . g.125116
gcacctggctgagcctggctggcacagaaacctctactaaaaagaaggaaaatgatctga c.*60
. . . . . . g.125176
gtcccaggagctgcccagagttgctgggagctgaaaaatcacatcctggcctggcacatc c.*120
. . . . . . g.125236
agaaaggaatgggggcctcttcaaattagaagacatttatactcttttttcatggacact c.*180
. . . . . . g.125296
ttgaaatgtgtttctgtataaagcctgtattctcaaacacagttacacttgtgcaccctc c.*240
. . . . . . g.125356
tatcccaataggcagactgggtttctagcccatggacttcacataagctcagaatccaag c.*300
. . . . . . g.125416
tgaacactagccagacactctgctctgcccttgttccctaggggacacttccctctgttt c.*360
. . . . . . g.125476
ctctttccttggctcccattcactcttccagaatcccaagacccagggcccaggcaaatc c.*420
. . . . . . g.125536
agttactaagaagaaaattgctgtgcctcccaaaattgttttgagctttccatgttgctg c.*480
. . . . . . g.125596
ccaaccataccttccttccctgggctgtgctacctgggtccttttcagaagtgagctttg c.*540
. . . . . . g.125656
ctgctacaggggaaggtggcctctgtggagccccagcatatgggggcctggattcatttc c.*600
. . . . . . g.125716
ctgcccttcctcagtttaatccttctagtttcccacaatataaaactgtacttcactgtc c.*660
. . . . . . g.125776
aggaagaaatcacagaatcatatgattctgcttttaccatgcccctgagcaatgtctgtg c.*720
. . . . . . g.125836
ctagggaaacttcccgtcccatatcctgcctcagcccgccaaggtagccatcccatgaac c.*780
. . . . . . g.125896
acactgtgtcctggtgctctctgccactggaagggcagagtagccagggtgtggccctgc c.*840
. . . . . . g.125956
catcttcccagcagggccactcccggcactccatgcttagtcactgcctgcagaggtctg c.*900
. . . . . . g.126016
tgctgaggccttatcattcattcttagctcttaattgttcattttgagctgaaatgctgc c.*960
. . . . . . g.126076
attttaattttaaccaaaacatgtctcctatcctggtttttgtagccttcctccacatcc c.*1020
. . . . . . g.126136
tttctaaacaagattttaaagacatgtaggtgtttgttcatctgtaactctaaaagatcc c.*1080
. . . . . . g.126196
tttttaaattcagtcctaagaaagaggagtgcttgtcccctaagagtgtttaatggcaag c.*1140
. . . . . . g.126256
gcagccctgtctgaaggacacttcctgcctaagggagagtggtatttgcagactagaatt c.*1200
. . . . . . g.126316
ctagtgctgctgaagatgaatcaatgggaaatactactcctgtaattcctacctccctgc c.*1260
. . . . . . g.126376
aaccaactacaaccaagctctctgcatctactcccaagtatggggttcaagagagtaatg c.*1320
. . . . . . g.126436
ggtttcatatttcttatcaccacagtaagttcctactaggcaaaatgagagggcagtgtt c.*1380
. . . . . . g.126496
tcctttttggtacttattactgctaagtatttcccagcacatgaaaccttattttttccc c.*1440
. . . . . . g.126556
aaagccagaaccagatgagtaaaggagtaagaaccttgcctgaacatccttccttcccac c.*1500
. . . . . . g.126616
ccatcgctgtgtgttagttcccaacatcgaatgtgtacaacttaagttggtcctttacac c.*1560
. . . . . . g.126676
tcaggctttcactatttcctttataatgaggatgattattttcaaggccctcagcatatt c.*1620
. . . . . . g.126736
tgtatagttgcttgcctgatataaatgcaatattaatgcctttaaagtatgaatctatgc c.*1680
. . . . . . g.126796
caaagatcacttgttgttttactaaagaaagattacttagaggaaataagaaaaatcatg c.*1740
. . . . . . g.126856
tttgctctcccggttcttccagtggtttgagacactggtttacactttatgccggatgtg c.*1800
. . . . . . g.126916
cttttctccaatatcagtgctcgagacacagtgaagcaaattaaaaaaaaaaaaaaaaaa c.*1860
. . . . . . g.126976
aatccctgaatgatgattagagacatcaccgctaaaaaactacatttataagctaggatt c.*1920
. . . . . . g.127036
tgttatatgcaaatattttctgcctcttcttttgttctgtttaaaacaataaaatgcatt c.*1980
. g.127047
tgtataaaaaa c.*1991
(downstream sequence)
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