Canonical Allele Identifier: CA6884211

Gene: PUS1

Linked Data

• ClinVar Variation Id: 883357
• ClinVar RCV Id: RCV001113696 ; RCV001575667
• dbSNP Id: rs200591614
• ExAC: 12:132425941 G / A
• gnomAD v2: 12-132425941-G-A
• gnomAD v3: 12-131941396-G-A
• gnomAD v4: 12-131941396-G-A
• MyVariant Identifiers: chr12:g.132425941G>A (hg19) ; chr12:g.131941396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941396G>A , CM000674.2:g.131941396G>A	GRCh38
NC_000012.11:g.132425941G>A , CM000674.1:g.132425941G>A	GRCh37
NC_000012.10:g.130991894G>A	NCBI36
NG_013039.1:g.17197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.649G>A MANE Select	ENSP00000365837.3:p.Val217Ile
ENST00000322060.9:c.565G>A	ENSP00000324726.5:p.Val189Ile
ENST00000376649.7:c.649G>A	ENSP00000365837.3:p.Val217Ile
ENST00000443358.6:c.565G>A	ENSP00000392451.2:p.Val189Ile
ENST00000535067.5:c.358-2143G>A	ENSP00000443969.1:n.358-2143G>A
ENST00000537484.1:c.574G>A	ENSP00000440179.1:p.Val192Ile
ENST00000542167.2:c.490G>A	ENSP00000438948.1:p.Val164Ile
ENST00000543754.1:n.470G>A
NM_001002019.2:c.565G>A	NP_001002019.1:p.Val189Ile
NM_001002020.2:c.565G>A	NP_001002020.1:p.Val189Ile
NM_025215.5:c.649G>A	NP_079491.2:p.Val217Ile
XM_011538768.1:c.250G>A	XP_011537070.1:p.Val84Ile
XM_011538768.3:c.250G>A	XP_011537070.1:p.Val84Ile
XR_001748872.1:n.1104G>A
NM_001002019.3:c.565G>A	NP_001002019.1:p.Val189Ile
NM_001002020.3:c.565G>A	NP_001002020.1:p.Val189Ile
NM_025215.6:c.649G>A MANE Select	NP_079491.2:p.Val217Ile