Canonical Allele Identifier: CA370317032

Gene: BLK

Linked Data

• dbSNP Id: rs1801615205
• MyVariant Identifiers: chr8:g.11421575C>A (hg19) ; chr8:g.11564066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564066C>A , CM000670.2:g.11564066C>A	GRCh38
NC_000008.10:g.11421575C>A , CM000670.1:g.11421575C>A	GRCh37
NC_000008.9:g.11458984C>A	NCBI36
NG_023543.1:g.75055C>A
NG_023543.2:g.75055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1584C>A
ENST00000696154.1:c.*794C>A	ENSP00000512445.1:n.*794C>A
ENST00000696155.1:n.360C>A
ENST00000259089.9:c.1476C>A MANE Select	ENSP00000259089.4:p.Asp492Glu
ENST00000645242.1:c.1263C>A	ENSP00000494690.1:p.Asp421Glu
ENST00000259089.8:c.1476C>A	ENSP00000259089.4:p.Asp492Glu
ENST00000526097.1:n.1416C>A
ENST00000529894.1:c.1263C>A	ENSP00000433663.1:p.Asp421Glu
NM_001715.2:c.1476C>A	NP_001706.2:p.Asp492Glu
XM_011543824.1:c.1554C>A	XP_011542126.1:p.Asp518Glu
XM_011543825.1:c.1554C>A	XP_011542127.1:p.Asp518Glu
XM_011543826.1:c.1554C>A	XP_011542128.1:p.Asp518Glu
XM_011543827.1:c.1341C>A	XP_011542129.1:p.Asp447Glu
NM_001330465.1:c.1263C>A	NP_001317394.1:p.Asp421Glu
XM_011543825.3:c.1554C>A	XP_011542127.1:p.Asp518Glu
NM_001715.3:c.1476C>A MANE Select	NP_001706.2:p.Asp492Glu
NM_001330465.2:c.1263C>A	NP_001317394.1:p.Asp421Glu