Canonical Allele Identifier: CA387299183

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132426082C>A (hg19) ; chr12:g.131941537C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941537C>A , CM000674.2:g.131941537C>A	GRCh38
NC_000012.11:g.132426082C>A , CM000674.1:g.132426082C>A	GRCh37
NC_000012.10:g.130992035C>A	NCBI36
NG_013039.1:g.17338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.790C>A MANE Select	ENSP00000365837.3:p.Leu264Met
ENST00000322060.9:c.706C>A	ENSP00000324726.5:p.Leu236Met
ENST00000376649.7:c.790C>A	ENSP00000365837.3:p.Leu264Met
ENST00000443358.6:c.706C>A	ENSP00000392451.2:p.Leu236Met
ENST00000535067.5:c.358-2002C>A	ENSP00000443969.1:n.358-2002C>A
ENST00000542167.2:c.631C>A	ENSP00000438948.1:p.Leu211Met
ENST00000543754.1:n.611C>A
NM_001002019.2:c.706C>A	NP_001002019.1:p.Leu236Met
NM_001002020.2:c.706C>A	NP_001002020.1:p.Leu236Met
NM_025215.5:c.790C>A	NP_079491.2:p.Leu264Met
XM_011538768.1:c.391C>A	XP_011537070.1:p.Leu131Met
XM_011538768.3:c.391C>A	XP_011537070.1:p.Leu131Met
XR_001748872.1:n.1245C>A
NM_001002019.3:c.706C>A	NP_001002019.1:p.Leu236Met
NM_001002020.3:c.706C>A	NP_001002020.1:p.Leu236Met
NM_025215.6:c.790C>A MANE Select	NP_079491.2:p.Leu264Met