Canonical Allele Identifier: CA387298516

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131939214G>A , CM000674.2:g.131939214G>A	GRCh38
NC_000012.11:g.132423759G>A , CM000674.1:g.132423759G>A	GRCh37
NC_000012.10:g.130989712G>A	NCBI36
NG_013039.1:g.15015G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.483G>A MANE Select	NP_079491.2:p.Trp161Ter
ENST00000376649.8:c.483G>A MANE Select	ENSP00000365837.3:p.Trp161Ter
NM_001002019.2:c.399G>A	NP_001002019.1:p.Trp133Ter
NM_001002019.3:c.399G>A	NP_001002019.1:p.Trp133Ter
NM_001002020.2:c.399G>A	NP_001002020.1:p.Trp133Ter
NM_001002020.3:c.399G>A	NP_001002020.1:p.Trp133Ter
NM_025215.5:c.483G>A	NP_079491.2:p.Trp161Ter
ENST00000322060.9:c.399G>A	ENSP00000324726.5:p.Trp133Ter
ENST00000376649.7:c.483G>A	ENSP00000365837.3:p.Trp161Ter
ENST00000443358.6:c.399G>A	ENSP00000392451.2:p.Trp133Ter
ENST00000535067.5:c.358-4325G>A	ENSP00000443969.1:n.358-4325G>A
ENST00000537484.1:c.470-2078G>A	ENSP00000440179.1:n.470-2078G>A
ENST00000538037.5:c.399G>A	ENSP00000440326.2:p.Trp133Ter
ENST00000542167.2:c.324G>A	ENSP00000438948.1:p.Trp108Ter
XM_011538768.1:c.84G>A	XP_011537070.1:p.Trp28Ter
XM_011538768.3:c.84G>A	XP_011537070.1:p.Trp28Ter
XR_001748872.1:n.938G>A