Canonical Allele Identifier: CA2072620906

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941317T= , CM000674.2:g.131941317T=	GRCh38
NC_000012.11:g.132425862T= , CM000674.1:g.132425862T=	GRCh37
NC_000012.10:g.130991815T=	NCBI36
NG_013039.1:g.17118T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.570T= MANE Select	ENSP00000365837.3:p.Phe190=
ENST00000322060.9:c.486T=	ENSP00000324726.5:p.Phe162=
ENST00000376649.7:c.570T=	ENSP00000365837.3:p.Phe190=
ENST00000443358.6:c.486T=	ENSP00000392451.2:p.Phe162=
ENST00000535067.5:c.358-2222T=	ENSP00000443969.1:n.358-2222T=
ENST00000537484.1:c.495T=	ENSP00000440179.1:p.Phe165=
ENST00000542167.2:c.411T=	ENSP00000438948.1:p.Phe137=
ENST00000543754.1:n.391T=
NM_001002019.2:c.486T=	NP_001002019.1:p.Phe162=
NM_001002020.2:c.486T=	NP_001002020.1:p.Phe162=
NM_025215.5:c.570T=	NP_079491.2:p.Phe190=
XM_011538768.1:c.171T=	XP_011537070.1:p.Phe57=
XM_011538768.3:c.171T=	XP_011537070.1:p.Phe57=
XR_001748872.1:n.1025T=
NM_001002019.3:c.486T=	NP_001002019.1:p.Phe162=
NM_001002020.3:c.486T=	NP_001002020.1:p.Phe162=
NM_025215.6:c.570T= MANE Select	NP_079491.2:p.Phe190=