(used for variant description)
(last modified July 3, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001139457.2 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_001139457.2.
(upstream sequence)
. g.5662
gatgggcctccgggacg c.-421
. . . . . . g.5722
gtgtgccaggccggggccaagtcggaggcccctcgctctgggtgggcgctggggcccgcg c.-361
. . . . . . g.5782
agggctactgtaaggacccctggcttctgaggatactgcgtctagaactttctccgtatg c.-301
. . . . . . g.5842
gggccttgaggtgcttggtcgagacctgcctttgcgcttggtcccgaatcctgccctcta c.-241
. . . . . . g.5902
ggagtcgctcttgcgggcctccagcccaccggaggcgaagcggccccgggcggaaggccg c.-181
. . . . . . g.5962
ctggatcctcgagggaggtgccggtttctctccgcgggcgccgtggggacggtgggaggc c.-121
. . . . . . g.6022
gggggcgtcggcagcgcttggactaggtgcggccttgggcctgcctggtagcggggattt c.-61
. . . . . . g.6082
gggcccgcagagcgcccgcctctgcggctgagttctgcctggcggggaagggagcgcccg c.-1
. . . . . . g.6142
ATGGGTGCCGAGGCGTCCTCCTCTTGGTGCCCTGGCACTGCTCTTCCCGAAGAACGCCTT c.60
M G A E A S S S W C P G T A L P E E R L p.20
. . . . . . g.6202
TCAGTTAAACGGGCGTCGGAAATCTCGGGCTTCCTGGGGCAGGGATCGTCGGGAGAGGCC c.120
S V K R A S E I S G F L G Q G S S G E A p.40
. . . | 02. . . g.6481
GCTCTGGACGTGTTGACACACGTGCTGGAGGGGGCAG | GAAACAAGCTCACATCTTCCTGT c.180
A L D V L T H V L E G A G | N K L T S S C p.60
. . . . . . g.6541
GGGAAACCTTCTAGCAACAGGATGAGTCTGCAGTGGACTGCAGTTGCCACCTTCCTCTAT c.240
G K P S S N R M S L Q W T A V A T F L Y p.80
. . . . . | 03 . g.8781
GCGGAGGTCTTTGTTGTGTTGCTTCTCTGCATTCCCTTCATTTCTCCTAAAAG | ATGGCAG c.300
A E V F V V L L L C I P F I S P K R | W Q p.100
. . . . . . g.8841
AAGATTTTCAAGTCCCGGCTGGTGGAGTTGTTAGTGTCCTATGGCAACACCTTCTTTGTG c.360
K I F K S R L V E L L V S Y G N T F F V p.120
. . . | 04 . . . g.14083
GTTCTCATTGTCATCCTTGTGCTGTTGGTCATCG | ATGCCGTGCGCGAAATTCGGAAGTAT c.420
V L I V I L V L L V I D | A V R E I R K Y p.140
. . . . . . g.14143
GATGATGTGACGGAAAAGGTGAACCTCCAGAACAATCCCGGGGCCATGGAGCACTTCCAC c.480
D D V T E K V N L Q N N P G A M E H F H p.160
. . . . . . g.14203
ATGAAGCTTTTCCGTGCCCAGAGGAATCTCTACATTGCTGGCTTTTCCTTGCTGCTGTCC c.540
M K L F R A Q R N L Y I A G F S L L L S p.180
| 05 . . . . . . g.25710
TT | CCTGCTTAGACGCCTGGTGACTCTCATTTCGCAGCAGGCCACGCTGCTGGCCTCCAAT c.600
F | L L R R L V T L I S Q Q A T L L A S N p.200
. . . . . . g.25770
GAAGCCTTTAAAAAGCAGGCGGAGAGTGCTAGTGAGGCGGCCAAGAAGTACATGGAGGAG c.660
E A F K K Q A E S A S E A A K K Y M E E p.220
. | 06 . . . . g.26730
AATGACCAGCTCAAGAAG | GGAGCTGCTGTTGACGGAGGCAAGTTGGATGTCGGGAATGCT c.720
N D Q L K K | G A A V D G G K L D V G N A p.240
. . . . . . g.26790
GAGGTGAAGTTGGAGGAAGAGAACAGGAGCCTGAAGGCTGACCTGCAGAAGCTAAAGGAC c.780
E V K L E E E N R S L K A D L Q K L K D p.260
. . | 07 . . . . g.27677
GAGCTGGCCAGCACTAAGCAAA | AACTAGAGAAAGCTGAAAACCAGGTTCTGGCCATGCGG c.840
E L A S T K Q K | L E K A E N Q V L A M R p.280
. . . . . . g.27737
AAGCAGTCTGAGGGCCTCACCAAGGAGTACGACCGCTTGCTGGAGGAGCACGCAAAGCTG c.900
K Q S E G L T K E Y D R L L E E H A K L p.300
| 08 . . . . g.28828
CAG | GCTGCAGTAGATGGTCCCATGGACAAGAAGGAAGAGTAA c.942
Q | A A V D G P M D K K E E X p.313
. . . . . . g.28888
gggcctccttcctcccctgcctgcagctggcttccacctggcacgtgcctgctgcttcct c.*60
. . . . . . g.28948
gagagcccggcctctccctccagtacttctgtttgtgcccttctgcttcccccattccct c.*120
. . . . . . g.29008
tccacagctcatagctcgtcatctcggcccttgtccacactctccaagcacattacaggg c.*180
. . . . . . g.29068
gacctgattgctacacgttcagaatgcgtttgctgtcatcctgcttggcctggccaggcc c.*240
. . . . . . g.29128
tggcacagccttggcttccacgcctgagcgtggagagcacgagttagttgtagtccggct c.*300
. . . . . . g.29188
tgcggtggggctgacttcctgttggtttgagcccctttttgttttgccctctgggtgttt c.*360
. . . . . . g.29248
tctttggtcccgcaggagggtgggtggagcaggtggactggagtttctcttgagggcaat c.*420
. . g.29273
aaaagttgtcatggtgtgtacgtgg c.*445
(downstream sequence)
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