Canonical Allele Identifier: CA2072621043

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941411T= , CM000674.2:g.131941411T=	GRCh38
NC_000012.11:g.132425956T= , CM000674.1:g.132425956T=	GRCh37
NC_000012.10:g.130991909T=	NCBI36
NG_013039.1:g.17212T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.664T= MANE Select	ENSP00000365837.3:p.Tyr222=
ENST00000322060.9:c.580T=	ENSP00000324726.5:p.Tyr194=
ENST00000376649.7:c.664T=	ENSP00000365837.3:p.Tyr222=
ENST00000443358.6:c.580T=	ENSP00000392451.2:p.Tyr194=
ENST00000535067.5:c.358-2128T=	ENSP00000443969.1:n.358-2128T=
ENST00000537484.1:c.589T=	ENSP00000440179.1:p.Tyr197=
ENST00000542167.2:c.505T=	ENSP00000438948.1:p.Tyr169=
ENST00000543754.1:n.485T=
NM_001002019.2:c.580T=	NP_001002019.1:p.Tyr194=
NM_001002020.2:c.580T=	NP_001002020.1:p.Tyr194=
NM_025215.5:c.664T=	NP_079491.2:p.Tyr222=
XM_011538768.1:c.265T=	XP_011537070.1:p.Tyr89=
XM_011538768.3:c.265T=	XP_011537070.1:p.Tyr89=
XR_001748872.1:n.1119T=
NM_001002019.3:c.580T=	NP_001002019.1:p.Tyr194=
NM_001002020.3:c.580T=	NP_001002020.1:p.Tyr194=
NM_025215.6:c.664T= MANE Select	NP_079491.2:p.Tyr222=