Canonical Allele Identifier: CA2072621204

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941492A= , CM000674.2:g.131941492A=	GRCh38
NC_000012.11:g.132426037A= , CM000674.1:g.132426037A=	GRCh37
NC_000012.10:g.130991990A=	NCBI36
NG_013039.1:g.17293A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.745A= MANE Select	ENSP00000365837.3:p.Thr249=
ENST00000322060.9:c.661A=	ENSP00000324726.5:p.Thr221=
ENST00000376649.7:c.745A=	ENSP00000365837.3:p.Thr249=
ENST00000443358.6:c.661A=	ENSP00000392451.2:p.Thr221=
ENST00000535067.5:c.358-2047A=	ENSP00000443969.1:n.358-2047A=
ENST00000542167.2:c.586A=	ENSP00000438948.1:p.Thr196=
ENST00000543754.1:n.566A=
NM_001002019.2:c.661A=	NP_001002019.1:p.Thr221=
NM_001002020.2:c.661A=	NP_001002020.1:p.Thr221=
NM_025215.5:c.745A=	NP_079491.2:p.Thr249=
XM_011538768.1:c.346A=	XP_011537070.1:p.Thr116=
XM_011538768.3:c.346A=	XP_011537070.1:p.Thr116=
XR_001748872.1:n.1200A=
NM_001002019.3:c.661A=	NP_001002019.1:p.Thr221=
NM_001002020.3:c.661A=	NP_001002020.1:p.Thr221=
NM_025215.6:c.745A= MANE Select	NP_079491.2:p.Thr249=