Canonical Allele Identifier: CA2072621266

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941539G= , CM000674.2:g.131941539G=	GRCh38
NC_000012.11:g.132426084G= , CM000674.1:g.132426084G=	GRCh37
NC_000012.10:g.130992037G=	NCBI36
NG_013039.1:g.17340G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.792G= MANE Select	ENSP00000365837.3:p.Leu264=
ENST00000322060.9:c.708G=	ENSP00000324726.5:p.Leu236=
ENST00000376649.7:c.792G=	ENSP00000365837.3:p.Leu264=
ENST00000443358.6:c.708G=	ENSP00000392451.2:p.Leu236=
ENST00000535067.5:c.358-2000G=	ENSP00000443969.1:n.358-2000G=
ENST00000542167.2:c.633G=	ENSP00000438948.1:p.Leu211=
ENST00000543754.1:n.613G=
NM_001002019.2:c.708G=	NP_001002019.1:p.Leu236=
NM_001002020.2:c.708G=	NP_001002020.1:p.Leu236=
NM_025215.5:c.792G=	NP_079491.2:p.Leu264=
XM_011538768.1:c.393G=	XP_011537070.1:p.Leu131=
XM_011538768.3:c.393G=	XP_011537070.1:p.Leu131=
XR_001748872.1:n.1247G=
NM_001002019.3:c.708G=	NP_001002019.1:p.Leu236=
NM_001002020.3:c.708G=	NP_001002020.1:p.Leu236=
NM_025215.6:c.792G= MANE Select	NP_079491.2:p.Leu264=