(used for variant description)
(last modified May 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001199563.1 in the BVES gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046732.1, covering BVES transcript NM_001199563.1.
(upstream sequence)
. . . g.5037
gtcgcgatgcctattttagtcaaagcggctgcgggct c.-181
. . . . . . g.5097
tggggacccggcccgggcagcggagcttccggacccgccgacccgccgaggagcgcgcgt c.-121
. . . . . . g.5157
cgggctcccgtcgagcagctgagcccgtgtgccccgcgtcccgcgccccgaagctgccgc c.-61
. . . . . | 02 g.8597
tccgaactttggtcggcgctgcccaggctccccgccagggaccagccgg | gaattttcaaa c.-1
. . . . . . g.8657
ATGAATTATACAGAGTCCAGCCCATTGAGAGAATCAACTGCCATAGGTTTTACACCTGAG c.60
M N Y T E S S P L R E S T A I G F T P E p.20
. . . . . . g.8717
TTAGAAAGTATCATACCTGTGCCTTCCAATAAGACCACTTGTGAAAACTGGAGAGAGATA c.120
L E S I I P V P S N K T T C E N W R E I p.40
. . . . . . g.8777
CATCATCTGGTTTTTCATGTAGCAAATATTTGTTTTGCAGTTGGGTTGGTTATTCCAACT c.180
H H L V F H V A N I C F A V G L V I P T p.60
. . . . | 03 . . g.12685
ACTCTTCACCTTCATATGATATTTCTTAGGGGAATGTTAACTCTAG | GATGTACCCTTTAT c.240
T L H L H M I F L R G M L T L G | C T L Y p.80
. . . . . . g.12745
ATCGTCTGGGCCACTCTCTACCGATGTGCCTTGGATATAATGATCTGGAACTCTGTGTTC c.300
I V W A T L Y R C A L D I M I W N S V F p.100
. . . . . | 04 . g.16605
TTGGGTGTCAACATTTTGCATCTGTCGTATCTTTTATACAAGAAGAGACCG | GTAAAGATT c.360
L G V N I L H L S Y L L Y K K R P | V K I p.120
. . . . . . g.16665
GAAAAGGAACTCAGTGGCATGTACCGGCGATTGTTTGAACCACTCCGTGTGCCTCCAGAT c.420
E K E L S G M Y R R L F E P L R V P P D p.140
. . . . . . g.16725
TTGTTCAGAAGACTAACTGGACAGTTTTGCATGATCCAAACCTTGAAAAAGGGCCAAACT c.480
L F R R L T G Q F C M I Q T L K K G Q T p.160
. . . . . | 05 g.17520
TATGCTGCAGAGGATAAAACCTCAGTTGATGACCGTCTGAGTATTCTCTTGAAGGGAAA | A c.540
Y A A E D K T S V D D R L S I L L K G K | p.180
. . . . . . g.17580
ATGAAGGTCTCCTATCGAGGACATTTTCTGCATAACATTTACCCCTGTGCCTTTATAGAT c.600
M K V S Y R G H F L H N I Y P C A F I D p.200
. . . . | 06 . g.25318
TCTCCTGAATTTAGATCAACTCAGATGCACAAAGGTGAAAAATTCCAG | GTCACCATTATT c.660
S P E F R S T Q M H K G E K F Q | V T I I p.220
. . . . . . g.25378
GCAGATGATAACTGCAGATTTTTATGCTGGTCAAGAGAAAGATTAACATACTTTCTGGAA c.720
A D D N C R F L C W S R E R L T Y F L E p.240
. . . . . . g.25438
TCAGAACCTTTCTTGTATGAAATCTTTAGGTATCTTATTGGAAAAGACATCACAAATAAG c.780
S E P F L Y E I F R Y L I G K D I T N K p.260
. . . | 07 . . . g.26371
CTCTACTCATTGAATGATCCCACCTTAAATGATAAA | AAAGCCAAAAAGCTGGAACATCAG c.840
L Y S L N D P T L N D K | K A K K L E H Q p.280
. . . . . . g.26431
CTCAGCCTCTGCACACAGATCTCCATGTTGGAAATGAGGAACAGTATAGCCAGCTCCAGT c.900
L S L C T Q I S M L E M R N S I A S S S p.300
. . . . . | 08 g.40963
GACAGTGACGACGGCTTGCACCAGTTTCTTCGGGGTACCTCCAGCATGTCCTCTCTTC | AT c.960
D S D D G L H Q F L R G T S S M S S L H | p.320
. . . . . . g.41023
GTGTCATCCCCACACCAGCGAGCCTCTGCCAAGATGAAACCGATAGAAGAAGGAGCAGAA c.1020
V S S P H Q R A S A K M K P I E E G A E p.340
. . . . . . g.41083
GATGATGATGACGTTTTTGAACCGGCATCTCCAAATACATTGAAAGTCCATCAGCTGCCT c.1080
D D D D V F E P A S P N T L K V H Q L P p.360
g.41086
TGA c.1083
X p.360
. . . . . . g.41146
tcagagagagaattcaggttaccaagacggaaggtgtcttgaagagatcctgaaaaatac c.*60
. . . . . . g.41206
cagcactttttcatggcttttaggttattctgctttagtgcatccagactggtggagtcg c.*120
. . . . . . g.41266
gagggaggaagtgaggaagggtcaaggatggaagagttctttcacttaccctttttatta c.*180
. . . . . . g.41326
gtcagcttttaaagtaattgttttactgagccttctgactatgccttgttctcttttgag c.*240
. . . . . . g.41386
atatatattttcacagtcttttctagatatattattgttttaacttaacaaatcttagca c.*300
. . . . . . g.41446
atctctcaatgccttttcacttatttttttccaagttatgattctttttcctcacagtct c.*360
. . . . . . g.41506
tttttgttccatagcaatgaggttgtccatttgataattttaacaaacaatgtaagttta c.*420
. . . . . . g.41566
aaattgaggctaaggtaacatgaaaaagcagggaatctcaaactttattccatatataca c.*480
. . . . . . g.41626
cacacacacacacacacacacacacacatacatacatacatatatatatatatatacata c.*540
. . . . . . g.41686
tatatacatacacacatacatataattttttttttttttgagatggagtttcactctgtc c.*600
. . . . . . g.41746
gcccaggctggagtgtagtggcacattctcagctcactgcaaactccacctcctggattc c.*660
. . . . . . g.41806
acgccactctcctgcctcagcctcccgagtagctgggactacaggcacctgccaccgcgc c.*720
. . . . . . g.41866
ccagctaatttttttgtatttttagtagagatggggtttcactgtgttagccaggatggt c.*780
. . . . . . g.41926
ctcgatctcctgacctcgtgatccgcccaccttggcctcccagagtgctgggattacagg c.*840
. . . . . . g.41986
cgtgagccaccgcgcccggcctattccatatttttttaatgggacattttagagaaaggt c.*900
. . . . . . g.42046
gtgatttgactggttttatttttctcccaggccagaagtattactccactagatcacctt c.*960
. . . . . . g.42106
acttaattgggcactgtgtggataacttgataatgaacaaaactctcagattttactcac c.*1020
. . . . . . g.42166
attacccttgtattatgccatttataaactgctctgaaacctgaagctggaaagataaca c.*1080
. . . . . . g.42226
gatgggtttctgagcacggggttaacctccagctaaactcaacttccttgggatttggag c.*1140
. . . . . . g.42286
tcaccatgttgtgcacactctggtgtgggaaacactttatgtagggtgggaggacagggg c.*1200
. . . . . . g.42346
agttaaatggctgggcaggtgccacaggatgaggccactgaaagatctgcttcattcttt c.*1260
. . . . . . g.42406
gatctgtattctgaagttccagattgttcatctagaggcagagacatctcttttaaaaaa c.*1320
. . . . . . g.42466
gtgccagatgccccagtgccagagctgcgaacgtgaacacagtggaaggcagagggttta c.*1380
. . . . . . g.42526
ctacaggccaggccatggacaccccacccaggtactgcagtgagggccttgattccagag c.*1440
. . . . . . g.42586
ctctttttcctactgaaatcatggtttagtaaacagtggcatttggctggtgggaaatgc c.*1500
. . . . . . g.42646
gtaactggtcagtgtgtctggccagcgtggctgtggcacttggccaggacgctccgttga c.*1560
. . . . . . g.42706
atgaagctcattgattggccatgctggtcatgtctattttgcttcatccactagaaccaa c.*1620
. . . . . . g.42766
ctttgagtcagtctcctgttacgttaaatggctaagaaaagttccaaatgaagttgttct c.*1680
. . . . . . g.42826
caggtgaactgagccaaaagaagcaactcttaccatgaggtgatttctgttagaggagac c.*1740
. . . . . . g.42886
atataaataagctcatctagggtcacctcattttcctaaatatgtttttaaagcaattat c.*1800
. . . . . . g.42946
tgtagtaatttcatttgagttaaatttacatgctcggtcactcattgagaaaatttacac c.*1860
. . . . . . g.43006
agactctgaatccagttcctgtcatcttcagatgttggtttattgacatcacagtaaaaa c.*1920
. . . . . . g.43066
ggctactgtcgactggacacagtggctcacacatgtaatcacagcactttggggggccaa c.*1980
. . . . . . g.43126
ggtgggtggattgcttaagcccaggagttcaagaccagcctgggcaacatggctaaaccc c.*2040
. . . . . . g.43186
catctctacaaaaaaaattagctgggtgtggtggtacatacctgtagtcccagctactca c.*2100
. . . . . . g.43246
gaaggctgaggtgggaggttcacttgaacctgggaggttgaggttgcagtgagcacagat c.*2160
. . . . . . g.43306
cacaccactgcactccagcctgggcaacagagtgagaccctatttcaaaaaaaggctgct c.*2220
. . . . . . g.43366
ttcactgtactgctgcagcagtctcttcaggtagctaaattaggagcttgttttggagaa c.*2280
. . . . . . g.43426
atgaagcaaaggtgaatgacagcctaggcttgaaattataaagctctctcaggttgaact c.*2340
. . . . . . g.43486
ctctcgtgcgctctcgctctcactttcgccctgtacctgagagcacaggtgtaactgtga c.*2400
. . . . . . g.43546
tgtcatagtgccgagactactttcctttaaccattggggttaagttgggcagcccattta c.*2460
. . . . . . g.43606
gtttacacgcgcataagactaatttacaaaatcactctatacagtcattagatgtaacat c.*2520
. . . . . . g.43666
ccttccctgagtagaaagtaatgcatgtgtttggagattattttctgtaatgctgggaac c.*2580
. . . . . . g.43726
aaacctgttttaaaagcacactgctaaaagtaggtgatataagaccatttgctgttttta c.*2640
. . . . . . g.43786
ttaaagtatgtgtgtgtatcagtgtctcaatgtgaagattgtaacctcaagattaggaat c.*2700
. . . . . . g.43846
cttaaaagagccacttagcctgaatgggaaacgtgagactatttttaaacacacacctct c.*2760
. . . . . . g.43906
aaggaagaagcctcccatatagacttgatctcaaagaagcagataagaagacagaaaagt c.*2820
. . . . . . g.43966
gttttaagtgtaagatctcctatggagtactttaaattcatttatacaaatgaataagtg c.*2880
. . . . . . g.44026
tatctttgtataatgcataaatacatagataaaaacatgtttgctgccaaagttcccaat c.*2940
. . . . . . g.44086
aagatgcttcctgtgttttttggcctttacttagctgaatgatcaaagttcagaaaatgg c.*3000
. . . . . . g.44146
tctgcaaaagttactccatatacaaccccaaatctactactttaaatgtaacatcaactc c.*3060
. . . . . . g.44206
agttgtatgaatctggagtgtaatatttatattagaatgtatatgtcatttaaaatattt c.*3120
. . . . . . g.44266
tgaaagccctcataaatatttatatttactaaactaatagcatagacactatataaatcc c.*3180
. . . . . . g.44326
gcagtgatgcttatatatcttaaattagtaataatgggtgctatataattattttcagtt c.*3240
. . . . . . g.44386
actatccctgacactctggaatcttctccatttctccctatcactcaatttcattttaat c.*3300
. . . . . . g.44446
cattggacacctttgcgttttgctgctaacagtgtgtgtatgtcaccctctttatatctg c.*3360
. . . . . . g.44506
gttttcccacttgtctgaagctctcctgatcttagaacctggagctgcagattcctccat c.*3420
. . . . . . g.44566
gtcagctcccatcacggccccaaagacagagtcacttggttgctgagtcacttggttgct c.*3480
. . . . . . g.44626
ggaaaaatctttggggaaagctggtataagctacacactgacctgtccccagtgtttcca c.*3540
. . . . . . g.44686
ggtaatgacttggcactccagagaaagtttcatgctgttgcgtgtggtggctccaagcca c.*3600
. . . . . . g.44746
agcacctggcatgcaggtcagcccttcccagcgggcgtggcgtcgtcctcttcacagatg c.*3660
. . . . . . g.44806
ccacgttgcagccccaaggcctcaccattttgcgttttttagaaacccattttcttggtc c.*3720
. . . . . . g.44866
atttataaagctgctttatagatatctttgatcctggcatgccttggtttcctctccctt c.*3780
. . . . . . g.44926
ccctctttccaatcctggtttcctaacctcctcttgtagtaattctcaactcaactcaaa c.*3840
. . . . . . g.44986
gtcccaagaatttggaatggtaggatgctgtgcggggagctcgaggctgaggcataatca c.*3900
. . . . . . g.45046
ctgcttcggttctgctcatcaggggacacgctcccttactcatggcagccatgtttgatt c.*3960
. . . . . . g.45106
gtcacagagccccccgaatactctgtctatagtgacacactgtaggtgtcataaatttta c.*4020
. . . . . . g.45166
agaaacctgcttttaagtactatttataggtttttctgttatacttgcaacctagtttta c.*4080
. . . . . . g.45226
aaatacatgaggattttatgaaagctttatacagacatttataggaaactcattctttga c.*4140
. . . . . . g.45286
ttttaggtgccatttaaattgataacacttactttataaaaagatgctttttgtctggat c.*4200
. . . . . . g.45346
agagccttatagtttaaaatatcttcatatattgccatttgatcaaataaatttcttact c.*4260
g.45353
tagaaaa c.*4267
(downstream sequence)
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