Canonical Allele Identifier: CA370316957

Gene: BLK

Linked Data

• gnomAD v4: 8-11564041-A-G
• COSMIC: COSM3884994
• MyVariant Identifiers: chr8:g.11421550A>G (hg19) ; chr8:g.11564041A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564041A>G , CM000670.2:g.11564041A>G	GRCh38
NC_000008.10:g.11421550A>G , CM000670.1:g.11421550A>G	GRCh37
NC_000008.9:g.11458959A>G	NCBI36
NG_023543.1:g.75030A>G
NG_023543.2:g.75030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1559A>G
ENST00000696154.1:c.*769A>G	ENSP00000512445.1:n.*769A>G
ENST00000696155.1:n.335A>G
ENST00000259089.9:c.1451A>G MANE Select	ENSP00000259089.4:p.Glu484Gly
ENST00000645242.1:c.1238A>G	ENSP00000494690.1:p.Glu413Gly
ENST00000259089.8:c.1451A>G	ENSP00000259089.4:p.Glu484Gly
ENST00000526097.1:n.1391A>G
ENST00000529894.1:c.1238A>G	ENSP00000433663.1:p.Glu413Gly
NM_001715.2:c.1451A>G	NP_001706.2:p.Glu484Gly
XM_011543824.1:c.1529A>G	XP_011542126.1:p.Glu510Gly
XM_011543825.1:c.1529A>G	XP_011542127.1:p.Glu510Gly
XM_011543826.1:c.1529A>G	XP_011542128.1:p.Glu510Gly
XM_011543827.1:c.1316A>G	XP_011542129.1:p.Glu439Gly
NM_001330465.1:c.1238A>G	NP_001317394.1:p.Glu413Gly
XM_011543825.3:c.1529A>G	XP_011542127.1:p.Glu510Gly
NM_001715.3:c.1451A>G MANE Select	NP_001706.2:p.Glu484Gly
NM_001330465.2:c.1238A>G	NP_001317394.1:p.Glu413Gly