Canonical Allele Identifier: CA370311542

Gene: BLK

Linked Data

• gnomAD v4: 8-11548086-T-A
• MyVariant Identifiers: chr8:g.11405595T>A (hg19) ; chr8:g.11548086T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.381T>A
ENST00000696154.1:c.17T>A	ENSP00000512445.1:p.Leu6Gln
ENST00000259089.9:c.230T>A MANE Select	ENSP00000259089.4:p.Leu77Gln
ENST00000645242.1:c.17T>A	ENSP00000494690.1:p.Leu6Gln
ENST00000259089.8:c.230T>A	ENSP00000259089.4:p.Leu77Gln
ENST00000529894.1:c.17T>A	ENSP00000433663.1:p.Leu6Gln
ENST00000533828.1:n.428T>A
NM_001715.2:c.230T>A	NP_001706.2:p.Leu77Gln
XM_011543824.1:c.230T>A	XP_011542126.1:p.Leu77Gln
XM_011543825.1:c.230T>A	XP_011542127.1:p.Leu77Gln
XM_011543826.1:c.230T>A	XP_011542128.1:p.Leu77Gln
XM_011543827.1:c.17T>A	XP_011542129.1:p.Leu6Gln
XM_011543828.1:c.230T>A	XP_011542130.1:p.Leu77Gln
XM_011543829.1:c.230T>A	XP_011542131.1:p.Leu77Gln
NM_001330465.1:c.17T>A	NP_001317394.1:p.Leu6Gln
XM_011543825.3:c.230T>A	XP_011542127.1:p.Leu77Gln
XM_011543828.3:c.230T>A	XP_011542130.1:p.Leu77Gln
XM_011543829.3:c.230T>A	XP_011542131.1:p.Leu77Gln
NM_001715.3:c.230T>A MANE Select	NP_001706.2:p.Leu77Gln
NM_001330465.2:c.17T>A	NP_001317394.1:p.Leu6Gln