Canonical Allele Identifier: CA370316840

Gene: BLK

Linked Data

• MyVariant Identifiers: chr8:g.11421515C>A (hg19) ; chr8:g.11564006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564006C>A , CM000670.2:g.11564006C>A	GRCh38
NC_000008.10:g.11421515C>A , CM000670.1:g.11421515C>A	GRCh37
NC_000008.9:g.11458924C>A	NCBI36
NG_023543.1:g.74995C>A
NG_023543.2:g.74995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1524C>A
ENST00000696154.1:c.*734C>A	ENSP00000512445.1:n.*734C>A
ENST00000696155.1:n.300C>A
ENST00000259089.9:c.1416C>A MANE Select	ENSP00000259089.4:p.Cys472Ter
ENST00000645242.1:c.1203C>A	ENSP00000494690.1:p.Cys401Ter
ENST00000259089.8:c.1416C>A	ENSP00000259089.4:p.Cys472Ter
ENST00000526097.1:n.1356C>A
ENST00000529894.1:c.1203C>A	ENSP00000433663.1:p.Cys401Ter
NM_001715.2:c.1416C>A	NP_001706.2:p.Cys472Ter
XM_011543824.1:c.1494C>A	XP_011542126.1:p.Cys498Ter
XM_011543825.1:c.1494C>A	XP_011542127.1:p.Cys498Ter
XM_011543826.1:c.1494C>A	XP_011542128.1:p.Cys498Ter
XM_011543827.1:c.1281C>A	XP_011542129.1:p.Cys427Ter
NM_001330465.1:c.1203C>A	NP_001317394.1:p.Cys401Ter
XM_011543825.3:c.1494C>A	XP_011542127.1:p.Cys498Ter
NM_001715.3:c.1416C>A MANE Select	NP_001706.2:p.Cys472Ter
NM_001330465.2:c.1203C>A	NP_001317394.1:p.Cys401Ter