Canonical Allele Identifier: CA6884222

Gene: PUS1

Linked Data

• ClinVar Variation Id: 512296
• ClinVar RCV Id: RCV000601110 ; RCV000931387 ; RCV003935684
• dbSNP Id: rs550406574
• ExAC: 12:132425976 G / A
• gnomAD v2: 12-132425976-G-A
• gnomAD v3: 12-131941431-G-A
• gnomAD v4: 12-131941431-G-A
• MyVariant Identifiers: chr12:g.132425976G>A (hg19) ; chr12:g.131941431G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941431G>A , CM000674.2:g.131941431G>A	GRCh38
NC_000012.11:g.132425976G>A , CM000674.1:g.132425976G>A	GRCh37
NC_000012.10:g.130991929G>A	NCBI36
NG_013039.1:g.17232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.684G>A MANE Select	ENSP00000365837.3:p.Thr228=
ENST00000322060.9:c.600G>A	ENSP00000324726.5:p.Thr200=
ENST00000376649.7:c.684G>A	ENSP00000365837.3:p.Thr228=
ENST00000443358.6:c.600G>A	ENSP00000392451.2:p.Thr200=
ENST00000535067.5:c.358-2108G>A	ENSP00000443969.1:n.358-2108G>A
ENST00000542167.2:c.525G>A	ENSP00000438948.1:p.Thr175=
ENST00000543754.1:n.505G>A
NM_001002019.2:c.600G>A	NP_001002019.1:p.Thr200=
NM_001002020.2:c.600G>A	NP_001002020.1:p.Thr200=
NM_025215.5:c.684G>A	NP_079491.2:p.Thr228=
XM_011538768.1:c.285G>A	XP_011537070.1:p.Thr95=
XM_011538768.3:c.285G>A	XP_011537070.1:p.Thr95=
XR_001748872.1:n.1139G>A
NM_001002019.3:c.600G>A	NP_001002019.1:p.Thr200=
NM_001002020.3:c.600G>A	NP_001002020.1:p.Thr200=
NM_025215.6:c.684G>A MANE Select	NP_079491.2:p.Thr228=