Canonical Allele Identifier: CA4630511

Gene: BLK

Linked Data

• dbSNP Id: rs754170079
• ExAC: 8:11421493 A / G
• gnomAD v2: 8-11421493-A-G
• gnomAD v4: 8-11563984-A-G
• MyVariant Identifiers: chr8:g.11421493A>G (hg19) ; chr8:g.11563984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563984A>G , CM000670.2:g.11563984A>G	GRCh38
NC_000008.10:g.11421493A>G , CM000670.1:g.11421493A>G	GRCh37
NC_000008.9:g.11458902A>G	NCBI36
NG_023543.1:g.74973A>G
NG_023543.2:g.74973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1502A>G
ENST00000696154.1:c.*712A>G	ENSP00000512445.1:n.*712A>G
ENST00000696155.1:n.278A>G
ENST00000259089.9:c.1394A>G MANE Select	ENSP00000259089.4:p.Tyr465Cys
ENST00000645242.1:c.1181A>G	ENSP00000494690.1:p.Tyr394Cys
ENST00000259089.8:c.1394A>G	ENSP00000259089.4:p.Tyr465Cys
ENST00000526097.1:n.1334A>G
ENST00000529894.1:c.1181A>G	ENSP00000433663.1:p.Tyr394Cys
NM_001715.2:c.1394A>G	NP_001706.2:p.Tyr465Cys
XM_011543824.1:c.1472A>G	XP_011542126.1:p.Tyr491Cys
XM_011543825.1:c.1472A>G	XP_011542127.1:p.Tyr491Cys
XM_011543826.1:c.1472A>G	XP_011542128.1:p.Tyr491Cys
XM_011543827.1:c.1259A>G	XP_011542129.1:p.Tyr420Cys
NM_001330465.1:c.1181A>G	NP_001317394.1:p.Tyr394Cys
XM_011543825.3:c.1472A>G	XP_011542127.1:p.Tyr491Cys
NM_001715.3:c.1394A>G MANE Select	NP_001706.2:p.Tyr465Cys
NM_001330465.2:c.1181A>G	NP_001317394.1:p.Tyr394Cys