Canonical Allele Identifier: CA370317095

Gene: BLK

Linked Data

• gnomAD v4: 8-11564086-G-A
• MyVariant Identifiers: chr8:g.11421595G>A (hg19) ; chr8:g.11564086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564086G>A , CM000670.2:g.11564086G>A	GRCh38
NC_000008.10:g.11421595G>A , CM000670.1:g.11421595G>A	GRCh37
NC_000008.9:g.11459004G>A	NCBI36
NG_023543.1:g.75075G>A
NG_023543.2:g.75075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1604G>A
ENST00000696154.1:c.*814G>A	ENSP00000512445.1:n.*814G>A
ENST00000696155.1:n.380G>A
ENST00000259089.9:c.1496G>A MANE Select	ENSP00000259089.4:p.Arg499Gln
ENST00000645242.1:c.1283G>A	ENSP00000494690.1:p.Arg428Gln
ENST00000259089.8:c.1496G>A	ENSP00000259089.4:p.Arg499Gln
ENST00000526097.1:n.1436G>A
ENST00000529894.1:c.1283G>A	ENSP00000433663.1:p.Arg428Gln
NM_001715.2:c.1496G>A	NP_001706.2:p.Arg499Gln
XM_011543824.1:c.1574G>A	XP_011542126.1:p.Arg525Gln
XM_011543825.1:c.1574G>A	XP_011542127.1:p.Arg525Gln
XM_011543826.1:c.1574G>A	XP_011542128.1:p.Arg525Gln
XM_011543827.1:c.1361G>A	XP_011542129.1:p.Arg454Gln
NM_001330465.1:c.1283G>A	NP_001317394.1:p.Arg428Gln
XM_011543825.3:c.1574G>A	XP_011542127.1:p.Arg525Gln
NM_001715.3:c.1496G>A MANE Select	NP_001706.2:p.Arg499Gln
NM_001330465.2:c.1283G>A	NP_001317394.1:p.Arg428Gln