Canonical Allele Identifier: CA370317104

Gene: BLK

Linked Data

• MyVariant Identifiers: chr8:g.11421598A>C (hg19) ; chr8:g.11564089A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564089A>C , CM000670.2:g.11564089A>C	GRCh38
NC_000008.10:g.11421598A>C , CM000670.1:g.11421598A>C	GRCh37
NC_000008.9:g.11459007A>C	NCBI36
NG_023543.1:g.75078A>C
NG_023543.2:g.75078A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1607A>C
ENST00000696154.1:c.*817A>C	ENSP00000512445.1:n.*817A>C
ENST00000696155.1:n.383A>C
ENST00000259089.9:c.1499A>C MANE Select	ENSP00000259089.4:p.Gln500Pro
ENST00000645242.1:c.1286A>C	ENSP00000494690.1:p.Gln429Pro
ENST00000259089.8:c.1499A>C	ENSP00000259089.4:p.Gln500Pro
ENST00000526097.1:n.1439A>C
ENST00000529894.1:c.1286A>C	ENSP00000433663.1:p.Gln429Pro
NM_001715.2:c.1499A>C	NP_001706.2:p.Gln500Pro
XM_011543824.1:c.1577A>C	XP_011542126.1:p.Gln526Pro
XM_011543825.1:c.1577A>C	XP_011542127.1:p.Gln526Pro
XM_011543826.1:c.1577A>C	XP_011542128.1:p.Gln526Pro
XM_011543827.1:c.1364A>C	XP_011542129.1:p.Gln455Pro
NM_001330465.1:c.1286A>C	NP_001317394.1:p.Gln429Pro
XM_011543825.3:c.1577A>C	XP_011542127.1:p.Gln526Pro
NM_001715.3:c.1499A>C MANE Select	NP_001706.2:p.Gln500Pro
NM_001330465.2:c.1286A>C	NP_001317394.1:p.Gln429Pro