Canonical Allele Identifier: CA370316823

Gene: BLK

Linked Data

• ClinVar Variation Id: 912039
• ClinVar RCV Id: RCV001164968
• dbSNP Id: rs1171913284
• MyVariant Identifiers: chr8:g.11421510G>C (hg19) ; chr8:g.11564001G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564001G>C , CM000670.2:g.11564001G>C	GRCh38
NC_000008.10:g.11421510G>C , CM000670.1:g.11421510G>C	GRCh37
NC_000008.9:g.11458919G>C	NCBI36
NG_023543.1:g.74990G>C
NG_023543.2:g.74990G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1519G>C
ENST00000696154.1:c.*729G>C	ENSP00000512445.1:n.*729G>C
ENST00000696155.1:n.295G>C
ENST00000259089.9:c.1411G>C MANE Select	ENSP00000259089.4:p.Glu471Gln
ENST00000645242.1:c.1198G>C	ENSP00000494690.1:p.Glu400Gln
ENST00000259089.8:c.1411G>C	ENSP00000259089.4:p.Glu471Gln
ENST00000526097.1:n.1351G>C
ENST00000529894.1:c.1198G>C	ENSP00000433663.1:p.Glu400Gln
NM_001715.2:c.1411G>C	NP_001706.2:p.Glu471Gln
XM_011543824.1:c.1489G>C	XP_011542126.1:p.Glu497Gln
XM_011543825.1:c.1489G>C	XP_011542127.1:p.Glu497Gln
XM_011543826.1:c.1489G>C	XP_011542128.1:p.Glu497Gln
XM_011543827.1:c.1276G>C	XP_011542129.1:p.Glu426Gln
NM_001330465.1:c.1198G>C	NP_001317394.1:p.Glu400Gln
XM_011543825.3:c.1489G>C	XP_011542127.1:p.Glu497Gln
NM_001715.3:c.1411G>C MANE Select	NP_001706.2:p.Glu471Gln
NM_001330465.2:c.1198G>C	NP_001317394.1:p.Glu400Gln