Canonical Allele Identifier: CA246187074
Gene: PUS1 HGNC NCBI

Linked Data

dbSNP Id: rs779185827

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131941301G>A , CM000674.2:g.131941301G>A GRCh38
NC_000012.11:g.132425846G>A , CM000674.1:g.132425846G>A GRCh37
NC_000012.10:g.130991799G>A NCBI36
NG_013039.1:g.17102G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376649.8:c.554G>A MANE Select ENSP00000365837.3:p.Arg185Gln
ENST00000322060.9:c.470G>A ENSP00000324726.5:p.Arg157Gln
ENST00000376649.7:c.554G>A ENSP00000365837.3:p.Arg185Gln
ENST00000443358.6:c.470G>A ENSP00000392451.2:p.Arg157Gln
ENST00000535067.5:c.358-2238G>A ENSP00000443969.1:n.358-2238G>A
ENST00000537484.1:c.479G>A ENSP00000440179.1:p.Arg160Gln
ENST00000542167.2:c.395G>A ENSP00000438948.1:p.Arg132Gln
ENST00000543754.1:n.375G>A
NM_001002019.2:c.470G>A NP_001002019.1:p.Arg157Gln
NM_001002020.2:c.470G>A NP_001002020.1:p.Arg157Gln
NM_025215.5:c.554G>A NP_079491.2:p.Arg185Gln
XM_011538768.1:c.155G>A XP_011537070.1:p.Arg52Gln
XM_011538768.3:c.155G>A XP_011537070.1:p.Arg52Gln
XR_001748872.1:n.1009G>A
NM_001002019.3:c.470G>A NP_001002019.1:p.Arg157Gln
NM_001002020.3:c.470G>A NP_001002020.1:p.Arg157Gln
NM_025215.6:c.554G>A MANE Select NP_079491.2:p.Arg185Gln