Canonical Allele Identifier: CA2072621034

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941407G= , CM000674.2:g.131941407G=	GRCh38
NC_000012.11:g.132425952G= , CM000674.1:g.132425952G=	GRCh37
NC_000012.10:g.130991905G=	NCBI36
NG_013039.1:g.17208G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.660G= MANE Select	ENSP00000365837.3:p.Glu220=
ENST00000322060.9:c.576G=	ENSP00000324726.5:p.Glu192=
ENST00000376649.7:c.660G=	ENSP00000365837.3:p.Glu220=
ENST00000443358.6:c.576G=	ENSP00000392451.2:p.Glu192=
ENST00000535067.5:c.358-2132G=	ENSP00000443969.1:n.358-2132G=
ENST00000537484.1:c.585G=	ENSP00000440179.1:p.Glu195=
ENST00000542167.2:c.501G=	ENSP00000438948.1:p.Glu167=
ENST00000543754.1:n.481G=
NM_001002019.2:c.576G=	NP_001002019.1:p.Glu192=
NM_001002020.2:c.576G=	NP_001002020.1:p.Glu192=
NM_025215.5:c.660G=	NP_079491.2:p.Glu220=
XM_011538768.1:c.261G=	XP_011537070.1:p.Glu87=
XM_011538768.3:c.261G=	XP_011537070.1:p.Glu87=
XR_001748872.1:n.1115G=
NM_001002019.3:c.576G=	NP_001002019.1:p.Glu192=
NM_001002020.3:c.576G=	NP_001002020.1:p.Glu192=
NM_025215.6:c.660G= MANE Select	NP_079491.2:p.Glu220=