Canonical Allele Identifier: CA459320835

Gene: BLK

Linked Data

• gnomAD v4: 8-11563991-C-G
• COSMIC: COSM748574
• MyVariant Identifiers: chr8:g.11421500C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563991C>G , CM000670.2:g.11563991C>G	GRCh38
NC_000008.10:g.11421500C>G , CM000670.1:g.11421500C>G	GRCh37
NC_000008.9:g.11458909C>G	NCBI36
NG_023543.1:g.74980C>G
NG_023543.2:g.74980C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1509C>G
ENST00000696154.1:c.*719C>G	ENSP00000512445.1:n.*719C>G
ENST00000696155.1:n.285C>G
ENST00000259089.9:c.1401C>G MANE Select	ENSP00000259089.4:p.Gly467=
ENST00000645242.1:c.1188C>G	ENSP00000494690.1:p.Gly396=
ENST00000259089.8:c.1401C>G	ENSP00000259089.4:p.Gly467=
ENST00000526097.1:n.1341C>G
ENST00000529894.1:c.1188C>G	ENSP00000433663.1:p.Gly396=
NM_001715.2:c.1401C>G	NP_001706.2:p.Gly467=
XM_011543824.1:c.1479C>G	XP_011542126.1:p.Gly493=
XM_011543825.1:c.1479C>G	XP_011542127.1:p.Gly493=
XM_011543826.1:c.1479C>G	XP_011542128.1:p.Gly493=
XM_011543827.1:c.1266C>G	XP_011542129.1:p.Gly422=
NM_001330465.1:c.1188C>G	NP_001317394.1:p.Gly396=
XM_011543825.3:c.1479C>G	XP_011542127.1:p.Gly493=
NM_001715.3:c.1401C>G MANE Select	NP_001706.2:p.Gly467=
NM_001330465.2:c.1188C>G	NP_001317394.1:p.Gly396=