Canonical Allele Identifier: CA459320901

Gene: BLK

Linked Data

• gnomAD v4: 8-11564099-G-A
• MyVariant Identifiers: chr8:g.11421608G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564099G>A , CM000670.2:g.11564099G>A	GRCh38
NC_000008.10:g.11421608G>A , CM000670.1:g.11421608G>A	GRCh37
NC_000008.9:g.11459017G>A	NCBI36
NG_023543.1:g.75088G>A
NG_023543.2:g.75088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1617G>A
ENST00000696154.1:c.*827G>A	ENSP00000512445.1:n.*827G>A
ENST00000696155.1:n.393G>A
ENST00000259089.9:c.1509G>A MANE Select	ENSP00000259089.4:p.Leu503=
ENST00000645242.1:c.1296G>A	ENSP00000494690.1:p.Leu432=
ENST00000259089.8:c.1509G>A	ENSP00000259089.4:p.Leu503=
ENST00000526097.1:n.1449G>A
ENST00000529894.1:c.1296G>A	ENSP00000433663.1:p.Leu432=
NM_001715.2:c.1509G>A	NP_001706.2:p.Leu503=
XM_011543824.1:c.1587G>A	XP_011542126.1:p.Leu529=
XM_011543825.1:c.1587G>A	XP_011542127.1:p.Leu529=
XM_011543826.1:c.1587G>A	XP_011542128.1:p.Leu529=
XM_011543827.1:c.1374G>A	XP_011542129.1:p.Leu458=
NM_001330465.1:c.1296G>A	NP_001317394.1:p.Leu432=
XM_011543825.3:c.1587G>A	XP_011542127.1:p.Leu529=
NM_001715.3:c.1509G>A MANE Select	NP_001706.2:p.Leu503=
NM_001330465.2:c.1296G>A	NP_001317394.1:p.Leu432=