Canonical Allele Identifier: CA339572588

Gene: PUM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.31059346C>T , CM000663.2:g.31059346C>T	GRCh38
NC_000001.10:g.31532193C>T , CM000663.1:g.31532193C>T	GRCh37
NC_000001.9:g.31304780C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001020658.2:c.221G>A MANE Select	NP_001018494.1:p.Arg74His
ENST00000426105.7:c.221G>A MANE Select	ENSP00000391723.2:p.Arg74His
NM_001020658.1:c.221G>A	NP_001018494.1:p.Arg74His
NM_014676.2:c.221G>A	NP_055491.1:p.Arg74His
NM_014676.3:c.221G>A	NP_055491.1:p.Arg74His
ENST00000257075.9:c.221G>A	ENSP00000257075.5:p.Arg74His
ENST00000373741.8:c.329G>A	ENSP00000362846.4:p.Arg110His
ENST00000373742.6:c.329G>A	ENSP00000362847.2:p.Arg110His
ENST00000373747.7:c.221G>A	ENSP00000362852.3:p.Arg74His
ENST00000424085.6:c.221G>A	ENSP00000400141.2:p.Arg74His
ENST00000426105.6:c.221G>A	ENSP00000391723.2:p.Arg74His
ENST00000440538.6:c.221G>A	ENSP00000401777.2:p.Arg74His
ENST00000480602.1:c.221G>A	ENSP00000437269.1:p.Arg74His
ENST00000524516.1:n.312G>A
ENST00000525843.5:c.270G>A
ENST00000525948.5:c.221G>A	ENSP00000433099.1:p.Arg74His
ENST00000526215.5:c.221G>A	ENSP00000436921.1:p.Arg74His
ENST00000531867.1:c.221G>A	ENSP00000431470.1:p.Arg74His