Canonical Allele Identifier: CA370317004

Gene: BLK

Linked Data

• dbSNP Id: rs1801614968
• MyVariant Identifiers: chr8:g.11421567C>G (hg19) ; chr8:g.11564058C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564058C>G , CM000670.2:g.11564058C>G	GRCh38
NC_000008.10:g.11421567C>G , CM000670.1:g.11421567C>G	GRCh37
NC_000008.9:g.11458976C>G	NCBI36
NG_023543.1:g.75047C>G
NG_023543.2:g.75047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1576C>G
ENST00000696154.1:c.*786C>G	ENSP00000512445.1:n.*786C>G
ENST00000696155.1:n.352C>G
ENST00000259089.9:c.1468C>G MANE Select	ENSP00000259089.4:p.Leu490Val
ENST00000645242.1:c.1255C>G	ENSP00000494690.1:p.Leu419Val
ENST00000259089.8:c.1468C>G	ENSP00000259089.4:p.Leu490Val
ENST00000526097.1:n.1408C>G
ENST00000529894.1:c.1255C>G	ENSP00000433663.1:p.Leu419Val
NM_001715.2:c.1468C>G	NP_001706.2:p.Leu490Val
XM_011543824.1:c.1546C>G	XP_011542126.1:p.Leu516Val
XM_011543825.1:c.1546C>G	XP_011542127.1:p.Leu516Val
XM_011543826.1:c.1546C>G	XP_011542128.1:p.Leu516Val
XM_011543827.1:c.1333C>G	XP_011542129.1:p.Leu445Val
NM_001330465.1:c.1255C>G	NP_001317394.1:p.Leu419Val
XM_011543825.3:c.1546C>G	XP_011542127.1:p.Leu516Val
NM_001715.3:c.1468C>G MANE Select	NP_001706.2:p.Leu490Val
NM_001330465.2:c.1255C>G	NP_001317394.1:p.Leu419Val