Canonical Allele Identifier: CA6884220
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2077857
dbSNP Id: rs150144035
COSMIC: COSM314616

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131941426G>A , CM000674.2:g.131941426G>A GRCh38
NC_000012.11:g.132425971G>A , CM000674.1:g.132425971G>A GRCh37
NC_000012.10:g.130991924G>A NCBI36
NG_013039.1:g.17227G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376649.8:c.679G>A MANE Select ENSP00000365837.3:p.Glu227Lys
ENST00000322060.9:c.595G>A ENSP00000324726.5:p.Glu199Lys
ENST00000376649.7:c.679G>A ENSP00000365837.3:p.Glu227Lys
ENST00000443358.6:c.595G>A ENSP00000392451.2:p.Glu199Lys
ENST00000535067.5:c.358-2113G>A ENSP00000443969.1:n.358-2113G>A
ENST00000542167.2:c.520G>A ENSP00000438948.1:p.Glu174Lys
ENST00000543754.1:n.500G>A
NM_001002019.2:c.595G>A NP_001002019.1:p.Glu199Lys
NM_001002020.2:c.595G>A NP_001002020.1:p.Glu199Lys
NM_025215.5:c.679G>A NP_079491.2:p.Glu227Lys
XM_011538768.1:c.280G>A XP_011537070.1:p.Glu94Lys
XM_011538768.3:c.280G>A XP_011537070.1:p.Glu94Lys
XR_001748872.1:n.1134G>A
NM_001002019.3:c.595G>A NP_001002019.1:p.Glu199Lys
NM_001002020.3:c.595G>A NP_001002020.1:p.Glu199Lys
NM_025215.6:c.679G>A MANE Select NP_079491.2:p.Glu227Lys