Canonical Allele Identifier: CA370317129

Gene: BLK

Linked Data

• dbSNP Id: rs1401683992
• gnomAD v2: 8-11421604-A-T
• MyVariant Identifiers: chr8:g.11421604A>T (hg19) ; chr8:g.11564095A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564095A>T , CM000670.2:g.11564095A>T	GRCh38
NC_000008.10:g.11421604A>T , CM000670.1:g.11421604A>T	GRCh37
NC_000008.9:g.11459013A>T	NCBI36
NG_023543.1:g.75084A>T
NG_023543.2:g.75084A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1613A>T
ENST00000696154.1:c.*823A>T	ENSP00000512445.1:n.*823A>T
ENST00000696155.1:n.389A>T
ENST00000259089.9:c.1505A>T MANE Select	ENSP00000259089.4:p.Glu502Val
ENST00000645242.1:c.1292A>T	ENSP00000494690.1:p.Glu431Val
ENST00000259089.8:c.1505A>T	ENSP00000259089.4:p.Glu502Val
ENST00000526097.1:n.1445A>T
ENST00000529894.1:c.1292A>T	ENSP00000433663.1:p.Glu431Val
NM_001715.2:c.1505A>T	NP_001706.2:p.Glu502Val
XM_011543824.1:c.1583A>T	XP_011542126.1:p.Glu528Val
XM_011543825.1:c.1583A>T	XP_011542127.1:p.Glu528Val
XM_011543826.1:c.1583A>T	XP_011542128.1:p.Glu528Val
XM_011543827.1:c.1370A>T	XP_011542129.1:p.Glu457Val
NM_001330465.1:c.1292A>T	NP_001317394.1:p.Glu431Val
XM_011543825.3:c.1583A>T	XP_011542127.1:p.Glu528Val
NM_001715.3:c.1505A>T MANE Select	NP_001706.2:p.Glu502Val
NM_001330465.2:c.1292A>T	NP_001317394.1:p.Glu431Val