Canonical Allele Identifier: CA459320878

Gene: BLK

Linked Data

• gnomAD v4: 8-11564060-G-A
• MyVariant Identifiers: chr8:g.11421569G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564060G>A , CM000670.2:g.11564060G>A	GRCh38
NC_000008.10:g.11421569G>A , CM000670.1:g.11421569G>A	GRCh37
NC_000008.9:g.11458978G>A	NCBI36
NG_023543.1:g.75049G>A
NG_023543.2:g.75049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1578G>A
ENST00000696154.1:c.*788G>A	ENSP00000512445.1:n.*788G>A
ENST00000696155.1:n.354G>A
ENST00000259089.9:c.1470G>A MANE Select	ENSP00000259089.4:p.Leu490=
ENST00000645242.1:c.1257G>A	ENSP00000494690.1:p.Leu419=
ENST00000259089.8:c.1470G>A	ENSP00000259089.4:p.Leu490=
ENST00000526097.1:n.1410G>A
ENST00000529894.1:c.1257G>A	ENSP00000433663.1:p.Leu419=
NM_001715.2:c.1470G>A	NP_001706.2:p.Leu490=
XM_011543824.1:c.1548G>A	XP_011542126.1:p.Leu516=
XM_011543825.1:c.1548G>A	XP_011542127.1:p.Leu516=
XM_011543826.1:c.1548G>A	XP_011542128.1:p.Leu516=
XM_011543827.1:c.1335G>A	XP_011542129.1:p.Leu445=
NM_001330465.1:c.1257G>A	NP_001317394.1:p.Leu419=
XM_011543825.3:c.1548G>A	XP_011542127.1:p.Leu516=
NM_001715.3:c.1470G>A MANE Select	NP_001706.2:p.Leu490=
NM_001330465.2:c.1257G>A	NP_001317394.1:p.Leu419=