Canonical Allele Identifier: CA2072620925

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941329C= , CM000674.2:g.131941329C=	GRCh38
NC_000012.11:g.132425874C= , CM000674.1:g.132425874C=	GRCh37
NC_000012.10:g.130991827C=	NCBI36
NG_013039.1:g.17130C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.582C= MANE Select	ENSP00000365837.3:p.Asn194=
ENST00000322060.9:c.498C=	ENSP00000324726.5:p.Asn166=
ENST00000376649.7:c.582C=	ENSP00000365837.3:p.Asn194=
ENST00000443358.6:c.498C=	ENSP00000392451.2:p.Asn166=
ENST00000535067.5:c.358-2210C=	ENSP00000443969.1:n.358-2210C=
ENST00000537484.1:c.507C=	ENSP00000440179.1:p.Asn169=
ENST00000542167.2:c.423C=	ENSP00000438948.1:p.Asn141=
ENST00000543754.1:n.403C=
NM_001002019.2:c.498C=	NP_001002019.1:p.Asn166=
NM_001002020.2:c.498C=	NP_001002020.1:p.Asn166=
NM_025215.5:c.582C=	NP_079491.2:p.Asn194=
XM_011538768.1:c.183C=	XP_011537070.1:p.Asn61=
XM_011538768.3:c.183C=	XP_011537070.1:p.Asn61=
XR_001748872.1:n.1037C=
NM_001002019.3:c.498C=	NP_001002019.1:p.Asn166=
NM_001002020.3:c.498C=	NP_001002020.1:p.Asn166=
NM_025215.6:c.582C= MANE Select	NP_079491.2:p.Asn194=