Canonical Allele Identifier: CA387299159

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2088556
• ClinVar RCV Id: RCV003011701
• dbSNP Id: rs1891066407
• gnomAD v3: 12-131941525-T-C
• gnomAD v4: 12-131941525-T-C
• MyVariant Identifiers: chr12:g.132426070T>C (hg19) ; chr12:g.131941525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941525T>C , CM000674.2:g.131941525T>C	GRCh38
NC_000012.11:g.132426070T>C , CM000674.1:g.132426070T>C	GRCh37
NC_000012.10:g.130992023T>C	NCBI36
NG_013039.1:g.17326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.778T>C MANE Select	ENSP00000365837.3:p.Cys260Arg
ENST00000322060.9:c.694T>C	ENSP00000324726.5:p.Cys232Arg
ENST00000376649.7:c.778T>C	ENSP00000365837.3:p.Cys260Arg
ENST00000443358.6:c.694T>C	ENSP00000392451.2:p.Cys232Arg
ENST00000535067.5:c.358-2014T>C	ENSP00000443969.1:n.358-2014T>C
ENST00000542167.2:c.619T>C	ENSP00000438948.1:p.Cys207Arg
ENST00000543754.1:n.599T>C
NM_001002019.2:c.694T>C	NP_001002019.1:p.Cys232Arg
NM_001002020.2:c.694T>C	NP_001002020.1:p.Cys232Arg
NM_025215.5:c.778T>C	NP_079491.2:p.Cys260Arg
XM_011538768.1:c.379T>C	XP_011537070.1:p.Cys127Arg
XM_011538768.3:c.379T>C	XP_011537070.1:p.Cys127Arg
XR_001748872.1:n.1233T>C
NM_001002019.3:c.694T>C	NP_001002019.1:p.Cys232Arg
NM_001002020.3:c.694T>C	NP_001002020.1:p.Cys232Arg
NM_025215.6:c.778T>C MANE Select	NP_079491.2:p.Cys260Arg