Canonical Allele Identifier: CA172095346

Gene: BLK

Linked Data

• dbSNP Id: rs376977643
• gnomAD v4: 8-11563964-C-G
• MyVariant Identifiers: chr8:g.11421473C>G (hg19) ; chr8:g.11563964C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563964C>G , CM000670.2:g.11563964C>G	GRCh38
NC_000008.10:g.11421473C>G , CM000670.1:g.11421473C>G	GRCh37
NC_000008.9:g.11458882C>G	NCBI36
NG_023543.1:g.74953C>G
NG_023543.2:g.74953C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1482C>G
ENST00000696154.1:c.*692C>G	ENSP00000512445.1:n.*692C>G
ENST00000696155.1:n.258C>G
ENST00000259089.9:c.1374C>G MANE Select	ENSP00000259089.4:p.Asp458Glu
ENST00000645242.1:c.1161C>G	ENSP00000494690.1:p.Asp387Glu
ENST00000259089.8:c.1374C>G	ENSP00000259089.4:p.Asp458Glu
ENST00000526097.1:n.1314C>G
ENST00000529894.1:c.1161C>G	ENSP00000433663.1:p.Asp387Glu
NM_001715.2:c.1374C>G	NP_001706.2:p.Asp458Glu
XM_011543824.1:c.1452C>G	XP_011542126.1:p.Asp484Glu
XM_011543825.1:c.1452C>G	XP_011542127.1:p.Asp484Glu
XM_011543826.1:c.1452C>G	XP_011542128.1:p.Asp484Glu
XM_011543827.1:c.1239C>G	XP_011542129.1:p.Asp413Glu
NM_001330465.1:c.1161C>G	NP_001317394.1:p.Asp387Glu
XM_011543825.3:c.1452C>G	XP_011542127.1:p.Asp484Glu
NM_001715.3:c.1374C>G MANE Select	NP_001706.2:p.Asp458Glu
NM_001330465.2:c.1161C>G	NP_001317394.1:p.Asp387Glu