Canonical Allele Identifier: CA387298951

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425973G>C (hg19) ; chr12:g.131941428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941428G>C , CM000674.2:g.131941428G>C	GRCh38
NC_000012.11:g.132425973G>C , CM000674.1:g.132425973G>C	GRCh37
NC_000012.10:g.130991926G>C	NCBI36
NG_013039.1:g.17229G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.681G>C MANE Select	ENSP00000365837.3:p.Glu227Asp
ENST00000322060.9:c.597G>C	ENSP00000324726.5:p.Glu199Asp
ENST00000376649.7:c.681G>C	ENSP00000365837.3:p.Glu227Asp
ENST00000443358.6:c.597G>C	ENSP00000392451.2:p.Glu199Asp
ENST00000535067.5:c.358-2111G>C	ENSP00000443969.1:n.358-2111G>C
ENST00000542167.2:c.522G>C	ENSP00000438948.1:p.Glu174Asp
ENST00000543754.1:n.502G>C
NM_001002019.2:c.597G>C	NP_001002019.1:p.Glu199Asp
NM_001002020.2:c.597G>C	NP_001002020.1:p.Glu199Asp
NM_025215.5:c.681G>C	NP_079491.2:p.Glu227Asp
XM_011538768.1:c.282G>C	XP_011537070.1:p.Glu94Asp
XM_011538768.3:c.282G>C	XP_011537070.1:p.Glu94Asp
XR_001748872.1:n.1136G>C
NM_001002019.3:c.597G>C	NP_001002019.1:p.Glu199Asp
NM_001002020.3:c.597G>C	NP_001002020.1:p.Glu199Asp
NM_025215.6:c.681G>C MANE Select	NP_079491.2:p.Glu227Asp