Canonical Allele Identifier: CA729325

Gene: PUM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.30992622A>G , CM000663.2:g.30992622A>G	GRCh38
NC_000001.10:g.31465469A>G , CM000663.1:g.31465469A>G	GRCh37
NC_000001.9:g.31238056A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001020658.2:c.926T>C MANE Select	NP_001018494.1:p.Val309Ala
ENST00000426105.7:c.926T>C MANE Select	ENSP00000391723.2:p.Val309Ala
NM_001020658.1:c.926T>C	NP_001018494.1:p.Val309Ala
NM_014676.2:c.926T>C	NP_055491.1:p.Val309Ala
NM_014676.3:c.926T>C	NP_055491.1:p.Val309Ala
ENST00000257075.9:c.926T>C	ENSP00000257075.5:p.Val309Ala
ENST00000373741.8:c.1034T>C	ENSP00000362846.4:p.Val345Ala
ENST00000373742.6:c.746T>C	ENSP00000362847.2:p.Val249Ala
ENST00000373747.7:c.926T>C	ENSP00000362852.3:p.Val309Ala
ENST00000424085.6:c.433-11217T>C	ENSP00000400141.2:n.433-11217T>C
ENST00000426105.6:c.926T>C	ENSP00000391723.2:p.Val309Ala
ENST00000440538.6:c.926T>C	ENSP00000401777.2:p.Val309Ala
ENST00000498419.5:c.45T>C
ENST00000525843.5:c.975T>C
ENST00000525948.5:c.*546T>C	ENSP00000433099.1:n.*546T>C
ENST00000526215.5:c.*162-11217T>C	ENSP00000436921.1:n.*162-11217T>C
ENST00000532678.1:c.90T>C