Canonical Allele Identifier: CA2072621200

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941487A= , CM000674.2:g.131941487A=	GRCh38
NC_000012.11:g.132426032A= , CM000674.1:g.132426032A=	GRCh37
NC_000012.10:g.130991985A=	NCBI36
NG_013039.1:g.17288A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.740A= MANE Select	ENSP00000365837.3:p.Asn247=
ENST00000322060.9:c.656A=	ENSP00000324726.5:p.Asn219=
ENST00000376649.7:c.740A=	ENSP00000365837.3:p.Asn247=
ENST00000443358.6:c.656A=	ENSP00000392451.2:p.Asn219=
ENST00000535067.5:c.358-2052A=	ENSP00000443969.1:n.358-2052A=
ENST00000542167.2:c.581A=	ENSP00000438948.1:p.Asn194=
ENST00000543754.1:n.561A=
NM_001002019.2:c.656A=	NP_001002019.1:p.Asn219=
NM_001002020.2:c.656A=	NP_001002020.1:p.Asn219=
NM_025215.5:c.740A=	NP_079491.2:p.Asn247=
XM_011538768.1:c.341A=	XP_011537070.1:p.Asn114=
XM_011538768.3:c.341A=	XP_011537070.1:p.Asn114=
XR_001748872.1:n.1195A=
NM_001002019.3:c.656A=	NP_001002019.1:p.Asn219=
NM_001002020.3:c.656A=	NP_001002020.1:p.Asn219=
NM_025215.6:c.740A= MANE Select	NP_079491.2:p.Asn247=