Canonical Allele Identifier: CA4630528

Gene: BLK

Linked Data

• dbSNP Id: rs766841412
• ExAC: 8:11421559 A / C
• gnomAD v2: 8-11421559-A-C
• gnomAD v3: 8-11564050-A-C
• gnomAD v4: 8-11564050-A-C
• MyVariant Identifiers: chr8:g.11421559A>C (hg19) ; chr8:g.11564050A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564050A>C , CM000670.2:g.11564050A>C	GRCh38
NC_000008.10:g.11421559A>C , CM000670.1:g.11421559A>C	GRCh37
NC_000008.9:g.11458968A>C	NCBI36
NG_023543.1:g.75039A>C
NG_023543.2:g.75039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1568A>C
ENST00000696154.1:c.*778A>C	ENSP00000512445.1:n.*778A>C
ENST00000696155.1:n.344A>C
ENST00000259089.9:c.1460A>C MANE Select	ENSP00000259089.4:p.Gln487Pro
ENST00000645242.1:c.1247A>C	ENSP00000494690.1:p.Gln416Pro
ENST00000259089.8:c.1460A>C	ENSP00000259089.4:p.Gln487Pro
ENST00000526097.1:n.1400A>C
ENST00000529894.1:c.1247A>C	ENSP00000433663.1:p.Gln416Pro
NM_001715.2:c.1460A>C	NP_001706.2:p.Gln487Pro
XM_011543824.1:c.1538A>C	XP_011542126.1:p.Gln513Pro
XM_011543825.1:c.1538A>C	XP_011542127.1:p.Gln513Pro
XM_011543826.1:c.1538A>C	XP_011542128.1:p.Gln513Pro
XM_011543827.1:c.1325A>C	XP_011542129.1:p.Gln442Pro
NM_001330465.1:c.1247A>C	NP_001317394.1:p.Gln416Pro
XM_011543825.3:c.1538A>C	XP_011542127.1:p.Gln513Pro
NM_001715.3:c.1460A>C MANE Select	NP_001706.2:p.Gln487Pro
NM_001330465.2:c.1247A>C	NP_001317394.1:p.Gln416Pro