Canonical Allele Identifier: CA459320881

Gene: BLK

Linked Data

• gnomAD v4: 8-11564063-G-A
• MyVariant Identifiers: chr8:g.11421572G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564063G>A , CM000670.2:g.11564063G>A	GRCh38
NC_000008.10:g.11421572G>A , CM000670.1:g.11421572G>A	GRCh37
NC_000008.9:g.11458981G>A	NCBI36
NG_023543.1:g.75052G>A
NG_023543.2:g.75052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1581G>A
ENST00000696154.1:c.*791G>A	ENSP00000512445.1:n.*791G>A
ENST00000696155.1:n.357G>A
ENST00000259089.9:c.1473G>A MANE Select	ENSP00000259089.4:p.Glu491=
ENST00000645242.1:c.1260G>A	ENSP00000494690.1:p.Glu420=
ENST00000259089.8:c.1473G>A	ENSP00000259089.4:p.Glu491=
ENST00000526097.1:n.1413G>A
ENST00000529894.1:c.1260G>A	ENSP00000433663.1:p.Glu420=
NM_001715.2:c.1473G>A	NP_001706.2:p.Glu491=
XM_011543824.1:c.1551G>A	XP_011542126.1:p.Glu517=
XM_011543825.1:c.1551G>A	XP_011542127.1:p.Glu517=
XM_011543826.1:c.1551G>A	XP_011542128.1:p.Glu517=
XM_011543827.1:c.1338G>A	XP_011542129.1:p.Glu446=
NM_001330465.1:c.1260G>A	NP_001317394.1:p.Glu420=
XM_011543825.3:c.1551G>A	XP_011542127.1:p.Glu517=
NM_001715.3:c.1473G>A MANE Select	NP_001706.2:p.Glu491=
NM_001330465.2:c.1260G>A	NP_001317394.1:p.Glu420=