Canonical Allele Identifier: CA370315166

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11557965G>T , CM000670.2:g.11557965G>T	GRCh38
NC_000008.10:g.11415474G>T , CM000670.1:g.11415474G>T	GRCh37
NC_000008.9:g.11452883G>T	NCBI36
NG_023543.1:g.68954G>T
NG_023543.2:g.68954G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001715.3:c.956G>T MANE Select	NP_001706.2:p.Cys319Phe
ENST00000259089.9:c.956G>T MANE Select	ENSP00000259089.4:p.Cys319Phe
NM_001330465.1:c.743G>T	NP_001317394.1:p.Cys248Phe
NM_001330465.2:c.743G>T	NP_001317394.1:p.Cys248Phe
NM_001715.2:c.956G>T	NP_001706.2:p.Cys319Phe
ENST00000259089.8:c.956G>T	ENSP00000259089.4:p.Cys319Phe
ENST00000529894.1:c.743G>T	ENSP00000433663.1:p.Cys248Phe
ENST00000645242.1:c.743G>T	ENSP00000494690.1:p.Cys248Phe
ENST00000696154.1:c.*258G>T	ENSP00000512445.1:n.*258G>T
ENST00000696154.2:n.1048G>T
XM_011543824.1:c.1034G>T	XP_011542126.1:p.Cys345Phe
XM_011543825.1:c.1034G>T	XP_011542127.1:p.Cys345Phe
XM_011543825.3:c.1034G>T	XP_011542127.1:p.Cys345Phe
XM_011543826.1:c.1034G>T	XP_011542128.1:p.Cys345Phe
XM_011543827.1:c.821G>T	XP_011542129.1:p.Cys274Phe