Canonical Allele Identifier: CA370311543

Gene: BLK

Linked Data

• dbSNP Id: rs1254010842
• gnomAD v2: 8-11405595-T-C
• MyVariant Identifiers: chr8:g.11405595T>C (hg19) ; chr8:g.11548086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548086T>C , CM000670.2:g.11548086T>C	GRCh38
NC_000008.10:g.11405595T>C , CM000670.1:g.11405595T>C	GRCh37
NC_000008.9:g.11443004T>C	NCBI36
NG_023543.1:g.59075T>C
NG_023543.2:g.59075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.381T>C
ENST00000696154.1:c.17T>C	ENSP00000512445.1:p.Leu6Pro
ENST00000259089.9:c.230T>C MANE Select	ENSP00000259089.4:p.Leu77Pro
ENST00000645242.1:c.17T>C	ENSP00000494690.1:p.Leu6Pro
ENST00000259089.8:c.230T>C	ENSP00000259089.4:p.Leu77Pro
ENST00000529894.1:c.17T>C	ENSP00000433663.1:p.Leu6Pro
ENST00000533828.1:n.428T>C
NM_001715.2:c.230T>C	NP_001706.2:p.Leu77Pro
XM_011543824.1:c.230T>C	XP_011542126.1:p.Leu77Pro
XM_011543825.1:c.230T>C	XP_011542127.1:p.Leu77Pro
XM_011543826.1:c.230T>C	XP_011542128.1:p.Leu77Pro
XM_011543827.1:c.17T>C	XP_011542129.1:p.Leu6Pro
XM_011543828.1:c.230T>C	XP_011542130.1:p.Leu77Pro
XM_011543829.1:c.230T>C	XP_011542131.1:p.Leu77Pro
NM_001330465.1:c.17T>C	NP_001317394.1:p.Leu6Pro
XM_011543825.3:c.230T>C	XP_011542127.1:p.Leu77Pro
XM_011543828.3:c.230T>C	XP_011542130.1:p.Leu77Pro
XM_011543829.3:c.230T>C	XP_011542131.1:p.Leu77Pro
NM_001715.3:c.230T>C MANE Select	NP_001706.2:p.Leu77Pro
NM_001330465.2:c.17T>C	NP_001317394.1:p.Leu6Pro