Canonical Allele Identifier: CA6884217

Gene: PUS1

Linked Data

• ClinVar Variation Id: 1496014
• ClinVar RCV Id: RCV001991681
• dbSNP Id: rs750543437
• ExAC: 12:132425960 G / A
• gnomAD v2: 12-132425960-G-A
• gnomAD v3: 12-131941415-G-A
• gnomAD v4: 12-131941415-G-A
• COSMIC: COSM4555771
• MyVariant Identifiers: chr12:g.132425960G>A (hg19) ; chr12:g.131941415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941415G>A , CM000674.2:g.131941415G>A	GRCh38
NC_000012.11:g.132425960G>A , CM000674.1:g.132425960G>A	GRCh37
NC_000012.10:g.130991913G>A	NCBI36
NG_013039.1:g.17216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.668G>A MANE Select	ENSP00000365837.3:p.Arg223His
ENST00000322060.9:c.584G>A	ENSP00000324726.5:p.Arg195His
ENST00000376649.7:c.668G>A	ENSP00000365837.3:p.Arg223His
ENST00000443358.6:c.584G>A	ENSP00000392451.2:p.Arg195His
ENST00000535067.5:c.358-2124G>A	ENSP00000443969.1:n.358-2124G>A
ENST00000537484.1:c.593G>A	ENSP00000440179.1:p.Arg198His
ENST00000542167.2:c.509G>A	ENSP00000438948.1:p.Arg170His
ENST00000543754.1:n.489G>A
NM_001002019.2:c.584G>A	NP_001002019.1:p.Arg195His
NM_001002020.2:c.584G>A	NP_001002020.1:p.Arg195His
NM_025215.5:c.668G>A	NP_079491.2:p.Arg223His
XM_011538768.1:c.269G>A	XP_011537070.1:p.Arg90His
XM_011538768.3:c.269G>A	XP_011537070.1:p.Arg90His
XR_001748872.1:n.1123G>A
NM_001002019.3:c.584G>A	NP_001002019.1:p.Arg195His
NM_001002020.3:c.584G>A	NP_001002020.1:p.Arg195His
NM_025215.6:c.668G>A MANE Select	NP_079491.2:p.Arg223His