Canonical Allele Identifier: CA2072621274

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941543A= , CM000674.2:g.131941543A=	GRCh38
NC_000012.11:g.132426088A= , CM000674.1:g.132426088A=	GRCh37
NC_000012.10:g.130992041A=	NCBI36
NG_013039.1:g.17344A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.796A= MANE Select	ENSP00000365837.3:p.Met266=
ENST00000322060.9:c.712A=	ENSP00000324726.5:p.Met238=
ENST00000376649.7:c.796A=	ENSP00000365837.3:p.Met266=
ENST00000443358.6:c.712A=	ENSP00000392451.2:p.Met238=
ENST00000535067.5:c.358-1996A=	ENSP00000443969.1:n.358-1996A=
ENST00000542167.2:c.637A=	ENSP00000438948.1:p.Met213=
ENST00000543754.1:n.617A=
NM_001002019.2:c.712A=	NP_001002019.1:p.Met238=
NM_001002020.2:c.712A=	NP_001002020.1:p.Met238=
NM_025215.5:c.796A=	NP_079491.2:p.Met266=
XM_011538768.1:c.397A=	XP_011537070.1:p.Met133=
XM_011538768.3:c.397A=	XP_011537070.1:p.Met133=
XR_001748872.1:n.1251A=
NM_001002019.3:c.712A=	NP_001002019.1:p.Met238=
NM_001002020.3:c.712A=	NP_001002020.1:p.Met238=
NM_025215.6:c.796A= MANE Select	NP_079491.2:p.Met266=