Canonical Allele Identifier: CA320953

Gene: PUS1

Linked Data

• ClinVar Variation Id: 215036
• ClinVar RCV Id: RCV000196531
• dbSNP Id: rs863224173
• gnomAD v4: 12-131941565-T-C
• MyVariant Identifiers: chr12:g.132426110T>C (hg19) ; chr12:g.131941565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941565T>C , CM000674.2:g.131941565T>C	GRCh38
NC_000012.11:g.132426110T>C , CM000674.1:g.132426110T>C	GRCh37
NC_000012.10:g.130992063T>C	NCBI36
NG_013039.1:g.17366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.818T>C MANE Select	ENSP00000365837.3:p.Val273Ala
ENST00000322060.9:c.734T>C	ENSP00000324726.5:p.Val245Ala
ENST00000376649.7:c.818T>C	ENSP00000365837.3:p.Val273Ala
ENST00000443358.6:c.734T>C	ENSP00000392451.2:p.Val245Ala
ENST00000535067.5:c.358-1974T>C	ENSP00000443969.1:n.358-1974T>C
ENST00000542167.2:c.659T>C	ENSP00000438948.1:p.Val220Ala
ENST00000543754.1:n.639T>C
NM_001002019.2:c.734T>C	NP_001002019.1:p.Val245Ala
NM_001002020.2:c.734T>C	NP_001002020.1:p.Val245Ala
NM_025215.5:c.818T>C	NP_079491.2:p.Val273Ala
XM_011538768.1:c.419T>C	XP_011537070.1:p.Val140Ala
XM_011538768.3:c.419T>C	XP_011537070.1:p.Val140Ala
XR_001748872.1:n.1273T>C
NM_001002019.3:c.734T>C	NP_001002019.1:p.Val245Ala
NM_001002020.3:c.734T>C	NP_001002020.1:p.Val245Ala
NM_025215.6:c.818T>C MANE Select	NP_079491.2:p.Val273Ala