Canonical Allele Identifier: CA387298948

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425972A>C (hg19) ; chr12:g.131941427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941427A>C , CM000674.2:g.131941427A>C	GRCh38
NC_000012.11:g.132425972A>C , CM000674.1:g.132425972A>C	GRCh37
NC_000012.10:g.130991925A>C	NCBI36
NG_013039.1:g.17228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.680A>C MANE Select	ENSP00000365837.3:p.Glu227Ala
ENST00000322060.9:c.596A>C	ENSP00000324726.5:p.Glu199Ala
ENST00000376649.7:c.680A>C	ENSP00000365837.3:p.Glu227Ala
ENST00000443358.6:c.596A>C	ENSP00000392451.2:p.Glu199Ala
ENST00000535067.5:c.358-2112A>C	ENSP00000443969.1:n.358-2112A>C
ENST00000542167.2:c.521A>C	ENSP00000438948.1:p.Glu174Ala
ENST00000543754.1:n.501A>C
NM_001002019.2:c.596A>C	NP_001002019.1:p.Glu199Ala
NM_001002020.2:c.596A>C	NP_001002020.1:p.Glu199Ala
NM_025215.5:c.680A>C	NP_079491.2:p.Glu227Ala
XM_011538768.1:c.281A>C	XP_011537070.1:p.Glu94Ala
XM_011538768.3:c.281A>C	XP_011537070.1:p.Glu94Ala
XR_001748872.1:n.1135A>C
NM_001002019.3:c.596A>C	NP_001002019.1:p.Glu199Ala
NM_001002020.3:c.596A>C	NP_001002020.1:p.Glu199Ala
NM_025215.6:c.680A>C MANE Select	NP_079491.2:p.Glu227Ala