Canonical Allele Identifier: CA4629867

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11550181C>T , CM000670.2:g.11550181C>T	GRCh38
NC_000008.10:g.11407690C>T , CM000670.1:g.11407690C>T	GRCh37
NC_000008.9:g.11445099C>T	NCBI36
NG_023543.1:g.61170C>T
NG_023543.2:g.61170C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001715.3:c.391C>T MANE Select	NP_001706.2:p.Arg131Trp
ENST00000259089.9:c.391C>T MANE Select	ENSP00000259089.4:p.Arg131Trp
NM_001330465.1:c.178C>T	NP_001317394.1:p.Arg60Trp
NM_001330465.2:c.178C>T	NP_001317394.1:p.Arg60Trp
NM_001715.2:c.391C>T	NP_001706.2:p.Arg131Trp
ENST00000259089.8:c.391C>T	ENSP00000259089.4:p.Arg131Trp
ENST00000526778.1:n.188C>T
ENST00000529894.1:c.178C>T	ENSP00000433663.1:p.Arg60Trp
ENST00000645242.1:c.178C>T	ENSP00000494690.1:p.Arg60Trp
ENST00000696154.1:c.178C>T	ENSP00000512445.1:p.Arg60Trp
ENST00000696154.2:n.542C>T
XM_011543824.1:c.391C>T	XP_011542126.1:p.Arg131Trp
XM_011543825.1:c.391C>T	XP_011542127.1:p.Arg131Trp
XM_011543825.3:c.391C>T	XP_011542127.1:p.Arg131Trp
XM_011543826.1:c.391C>T	XP_011542128.1:p.Arg131Trp
XM_011543827.1:c.178C>T	XP_011542129.1:p.Arg60Trp
XM_011543828.1:c.391C>T	XP_011542130.1:p.Arg131Trp
XM_011543828.3:c.391C>T	XP_011542130.1:p.Arg131Trp
XM_011543829.1:c.391C>T	XP_011542131.1:p.Arg131Trp
XM_011543829.3:c.391C>T	XP_011542131.1:p.Arg131Trp