Canonical Allele Identifier: CA6884195

Gene: PUS1

Linked Data

• dbSNP Id: rs762808101
• ExAC: 12:132425857 G / A
• gnomAD v2: 12-132425857-G-A
• gnomAD v3: 12-131941312-G-A
• gnomAD v4: 12-131941312-G-A
• MyVariant Identifiers: chr12:g.132425857G>A (hg19) ; chr12:g.131941312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941312G>A , CM000674.2:g.131941312G>A	GRCh38
NC_000012.11:g.132425857G>A , CM000674.1:g.132425857G>A	GRCh37
NC_000012.10:g.130991810G>A	NCBI36
NG_013039.1:g.17113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.565G>A MANE Select	ENSP00000365837.3:p.Gly189Arg
ENST00000322060.9:c.481G>A	ENSP00000324726.5:p.Gly161Arg
ENST00000376649.7:c.565G>A	ENSP00000365837.3:p.Gly189Arg
ENST00000443358.6:c.481G>A	ENSP00000392451.2:p.Gly161Arg
ENST00000535067.5:c.358-2227G>A	ENSP00000443969.1:n.358-2227G>A
ENST00000537484.1:c.490G>A	ENSP00000440179.1:p.Gly164Arg
ENST00000542167.2:c.406G>A	ENSP00000438948.1:p.Gly136Arg
ENST00000543754.1:n.386G>A
NM_001002019.2:c.481G>A	NP_001002019.1:p.Gly161Arg
NM_001002020.2:c.481G>A	NP_001002020.1:p.Gly161Arg
NM_025215.5:c.565G>A	NP_079491.2:p.Gly189Arg
XM_011538768.1:c.166G>A	XP_011537070.1:p.Gly56Arg
XM_011538768.3:c.166G>A	XP_011537070.1:p.Gly56Arg
XR_001748872.1:n.1020G>A
NM_001002019.3:c.481G>A	NP_001002019.1:p.Gly161Arg
NM_001002020.3:c.481G>A	NP_001002020.1:p.Gly161Arg
NM_025215.6:c.565G>A MANE Select	NP_079491.2:p.Gly189Arg