Canonical Allele Identifier: CA4630364

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11561347C>T , CM000670.2:g.11561347C>T	GRCh38
NC_000008.10:g.11418856C>T , CM000670.1:g.11418856C>T	GRCh37
NC_000008.9:g.11456265C>T	NCBI36
NG_023543.1:g.72336C>T
NG_023543.2:g.72336C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001715.3:c.1075C>T MANE Select	NP_001706.2:p.Arg359Cys
ENST00000259089.9:c.1075C>T MANE Select	ENSP00000259089.4:p.Arg359Cys
NM_001330465.1:c.862C>T	NP_001317394.1:p.Arg288Cys
NM_001330465.2:c.862C>T	NP_001317394.1:p.Arg288Cys
NM_001715.2:c.1075C>T	NP_001706.2:p.Arg359Cys
ENST00000259089.8:c.1075C>T	ENSP00000259089.4:p.Arg359Cys
ENST00000526097.1:n.1015C>T
ENST00000529894.1:c.862C>T	ENSP00000433663.1:p.Arg288Cys
ENST00000645242.1:c.862C>T	ENSP00000494690.1:p.Arg288Cys
ENST00000696154.1:c.*393C>T	ENSP00000512445.1:n.*393C>T
ENST00000696154.2:n.1183C>T
XM_011543824.1:c.1153C>T	XP_011542126.1:p.Arg385Cys
XM_011543825.1:c.1153C>T	XP_011542127.1:p.Arg385Cys
XM_011543825.3:c.1153C>T	XP_011542127.1:p.Arg385Cys
XM_011543826.1:c.1153C>T	XP_011542128.1:p.Arg385Cys
XM_011543827.1:c.940C>T	XP_011542129.1:p.Arg314Cys