(used for variant description)
(last modified November 4, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001256447.1 in the BCAP31 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023231.1, covering BCAP31 transcript NM_001256447.1.
(upstream sequence)
. . . g.5037
accctgttctcgcccctcggcggggcccgcccacacc c.-421
. . . . . . g.5097
cccacctcccgttctcgcccctcggcggggcccctcccgcaccacagagacgtgggacgg c.-361
. . . . . . g.5157
ccgcgcggactagagaagcggccctcgccggcccgacaaagccccgccccgccccgcccg c.-301
. . . . . . g.5217
cgtgctcgctccaccccgccctgctcgcccggagcccgaggcgcctcttcctctcccgct c.-241
. . . . . . g.5277
cggagcgccggccctccgctccggggcggggtgggaagcggaggtgggcggagcctccgg c.-181
. . . . . . g.5337
ggcctcgcgagggctggtgggcggtgcccggcgggcgcttccggtttccggccgcggtat c.-121
. . . . . . g.5397
gaggggcggggccggggctgctgtgggagagttctgttgctgcggcggggcctgcacgtt c.-61
. . | 02 . . . . g.6502
gactgtgggaaactcg | gaaacaagctcacatcttcctgtgggaaaccttctagcaacagg c.-1
. . . . . . g.6562
ATGAGTCTGCAGTGGACTGCAGTTGCCACCTTCCTCTATGCGGAGGTCTTTGTTGTGTTG c.60
M S L Q W T A V A T F L Y A E V F V V L p.20
. . . | 03 . . . g.8802
CTTCTCTGCATTCCCTTCATTTCTCCTAAAAG | ATGGCAGAAGATTTTCAAGTCCCGGCTG c.120
L L C I P F I S P K R | W Q K I F K S R L p.40
. . . . . . g.8862
GTGGAGTTGTTAGTGTCCTATGGCAACACCTTCTTTGTGGTTCTCATTGTCATCCTTGTG c.180
V E L L V S Y G N T F F V V L I V I L V p.60
. | 04 . . . . . g.14104
CTGTTGGTCATCG | ATGCCGTGCGCGAAATTCGGAAGTATGATGATGTGACGGAAAAGGTG c.240
L L V I D | A V R E I R K Y D D V T E K V p.80
. . . . . . g.14164
AACCTCCAGAACAATCCCGGGGCCATGGAGCACTTCCACATGAAGCTTTTCCGTGCCCAG c.300
N L Q N N P G A M E H F H M K L F R A Q p.100
. . . . | 05 . . g.25671
AGGAATCTCTACATTGCTGGCTTTTCCTTGCTGCTGTCCTT | CCTGCTTAGACGCCTGGTG c.360
R N L Y I A G F S L L L S F | L L R R L V p.120
. . . . . . g.25731
ACTCTCATTTCGCAGCAGGCCACGCTGCTGGCCTCCAATGAAGCCTTTAAAAAGCAGGCG c.420
T L I S Q Q A T L L A S N E A F K K Q A p.140
. . . . . | 06. g.26691
GAGAGTGCTAGTGAGGCGGCCAAGAAGTACATGGAGGAGAATGACCAGCTCAAGAAG | GGA c.480
E S A S E A A K K Y M E E N D Q L K K | G p.160
. . . . . . g.26751
GCTGCTGTTGACGGAGGCAAGTTGGATGTCGGGAATGCTGAGGTGAAGTTGGAGGAAGAG c.540
A A V D G G K L D V G N A E V K L E E E p.180
. . . . . . g.26811
AACAGGAGCCTGAAGGCTGACCTGCAGAAGCTAAAGGACGAGCTGGCCAGCACTAAGCAA c.600
N R S L K A D L Q K L K D E L A S T K Q p.200
| 07 . . . . . . g.27698
A | AACTAGAGAAAGCTGAAAACCAGGTTCTGGCCATGCGGAAGCAGTCTGAGGGCCTCACC c.660
K | L E K A E N Q V L A M R K Q S E G L T p.220
. . . . | 08 . . g.28789
AAGGAGTACGACCGCTTGCTGGAGGAGCACGCAAAGCTGCAG | GCTGCAGTAGATGGTCCC c.720
K E Y D R L L E E H A K L Q | A A V D G P p.240
. . g.28810
ATGGACAAGAAGGAAGAGTAA c.741
M D K K E E X p.246
. . . . . . g.28870
gggcctccttcctcccctgcctgcagctggcttccacctggcacgtgcctgctgcttcct c.*60
. . . . . . g.28930
gagagcccggcctctccctccagtacttctgtttgtgcccttctgcttcccccattccct c.*120
. . . . . . g.28990
tccacagctcatagctcgtcatctcggcccttgtccacactctccaagcacattacaggg c.*180
. . . . . . g.29050
gacctgattgctacacgttcagaatgcgtttgctgtcatcctgcttggcctggccaggcc c.*240
. . . . . . g.29110
tggcacagccttggcttccacgcctgagcgtggagagcacgagttagttgtagtccggct c.*300
. . . . . . g.29170
tgcggtggggctgacttcctgttggtttgagcccctttttgttttgccctctgggtgttt c.*360
. . . . . . g.29230
tctttggtcccgcaggagggtgggtggagcaggtggactggagtttctcttgagggcaat c.*420
. . g.29255
aaaagttgtcatggtgtgtacgtgg c.*445
(downstream sequence)
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