Canonical Allele Identifier: CA2072620919

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941325A= , CM000674.2:g.131941325A=	GRCh38
NC_000012.11:g.132425870A= , CM000674.1:g.132425870A=	GRCh37
NC_000012.10:g.130991823A=	NCBI36
NG_013039.1:g.17126A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.578A= MANE Select	ENSP00000365837.3:p.Lys193=
ENST00000322060.9:c.494A=	ENSP00000324726.5:p.Lys165=
ENST00000376649.7:c.578A=	ENSP00000365837.3:p.Lys193=
ENST00000443358.6:c.494A=	ENSP00000392451.2:p.Lys165=
ENST00000535067.5:c.358-2214A=	ENSP00000443969.1:n.358-2214A=
ENST00000537484.1:c.503A=	ENSP00000440179.1:p.Lys168=
ENST00000542167.2:c.419A=	ENSP00000438948.1:p.Lys140=
ENST00000543754.1:n.399A=
NM_001002019.2:c.494A=	NP_001002019.1:p.Lys165=
NM_001002020.2:c.494A=	NP_001002020.1:p.Lys165=
NM_025215.5:c.578A=	NP_079491.2:p.Lys193=
XM_011538768.1:c.179A=	XP_011537070.1:p.Lys60=
XM_011538768.3:c.179A=	XP_011537070.1:p.Lys60=
XR_001748872.1:n.1033A=
NM_001002019.3:c.494A=	NP_001002019.1:p.Lys165=
NM_001002020.3:c.494A=	NP_001002020.1:p.Lys165=
NM_025215.6:c.578A= MANE Select	NP_079491.2:p.Lys193=