Canonical Allele Identifier: CA370311496

Gene: BLK

Linked Data

• gnomAD v4: 8-11548062-A-G
• COSMIC: COSM3884972
• MyVariant Identifiers: chr8:g.11405571A>G (hg19) ; chr8:g.11548062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548062A>G , CM000670.2:g.11548062A>G	GRCh38
NC_000008.10:g.11405571A>G , CM000670.1:g.11405571A>G	GRCh37
NC_000008.9:g.11442980A>G	NCBI36
NG_023543.1:g.59051A>G
NG_023543.2:g.59051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.357A>G
ENST00000696154.1:c.-8A>G	ENSP00000512445.1:n.-8A>G
ENST00000259089.9:c.206A>G MANE Select	ENSP00000259089.4:p.Tyr69Cys
ENST00000645242.1:c.-8A>G	ENSP00000494690.1:n.-8A>G
ENST00000259089.8:c.206A>G	ENSP00000259089.4:p.Tyr69Cys
ENST00000529894.1:c.-8A>G	ENSP00000433663.1:n.-8A>G
ENST00000533828.1:n.404A>G
NM_001715.2:c.206A>G	NP_001706.2:p.Tyr69Cys
XM_011543824.1:c.206A>G	XP_011542126.1:p.Tyr69Cys
XM_011543825.1:c.206A>G	XP_011542127.1:p.Tyr69Cys
XM_011543826.1:c.206A>G	XP_011542128.1:p.Tyr69Cys
XM_011543827.1:c.-8A>G	XP_011542129.1:n.-8A>G
XM_011543828.1:c.206A>G	XP_011542130.1:p.Tyr69Cys
XM_011543829.1:c.206A>G	XP_011542131.1:p.Tyr69Cys
NM_001330465.1:c.-8A>G	NP_001317394.1:n.-8A>G
XM_011543825.3:c.206A>G	XP_011542127.1:p.Tyr69Cys
XM_011543828.3:c.206A>G	XP_011542130.1:p.Tyr69Cys
XM_011543829.3:c.206A>G	XP_011542131.1:p.Tyr69Cys
NM_001715.3:c.206A>G MANE Select	NP_001706.2:p.Tyr69Cys
NM_001330465.2:c.-8A>G	NP_001317394.1:n.-8A>G