Canonical Allele Identifier: CA339564757

Gene: PUM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.30953900G>A , CM000663.2:g.30953900G>A	GRCh38
NC_000001.10:g.31426747G>A , CM000663.1:g.31426747G>A	GRCh37
NC_000001.9:g.31199334G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426105.7:c.2405C>T MANE Select	ENSP00000391723.2:p.Ser802Phe
ENST00000257075.9:c.2405C>T	ENSP00000257075.5:p.Ser802Phe
ENST00000373741.8:c.2513C>T	ENSP00000362846.4:p.Ser838Phe
ENST00000373742.6:c.2228C>T	ENSP00000362847.2:p.Ser743Phe
ENST00000373747.7:c.2408C>T	ENSP00000362852.3:p.Ser803Phe
ENST00000424085.6:c.1679C>T	ENSP00000400141.2:p.Ser560Phe
ENST00000426105.6:c.2405C>T	ENSP00000391723.2:p.Ser802Phe
ENST00000440538.6:c.2327C>T	ENSP00000401777.2:p.Ser776Phe
ENST00000498419.5:c.1539C>T
ENST00000525843.5:c.2220C>T
ENST00000527498.1:c.200-82C>T	ENSP00000431779.1:n.200-82C>T
NM_001020658.1:c.2405C>T	NP_001018494.1:p.Ser802Phe
NM_014676.2:c.2405C>T	NP_055491.1:p.Ser802Phe
NM_001020658.2:c.2405C>T MANE Select	NP_001018494.1:p.Ser802Phe
NM_014676.3:c.2405C>T	NP_055491.1:p.Ser802Phe