Canonical Allele Identifier: CA387298699

Gene: PUS1

Linked Data

• dbSNP Id: rs762808101
• gnomAD v2: 12-132425857-G-C
• gnomAD v4: 12-131941312-G-C
• MyVariant Identifiers: chr12:g.132425857G>C (hg19) ; chr12:g.131941312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941312G>C , CM000674.2:g.131941312G>C	GRCh38
NC_000012.11:g.132425857G>C , CM000674.1:g.132425857G>C	GRCh37
NC_000012.10:g.130991810G>C	NCBI36
NG_013039.1:g.17113G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.565G>C MANE Select	ENSP00000365837.3:p.Gly189Arg
ENST00000322060.9:c.481G>C	ENSP00000324726.5:p.Gly161Arg
ENST00000376649.7:c.565G>C	ENSP00000365837.3:p.Gly189Arg
ENST00000443358.6:c.481G>C	ENSP00000392451.2:p.Gly161Arg
ENST00000535067.5:c.358-2227G>C	ENSP00000443969.1:n.358-2227G>C
ENST00000537484.1:c.490G>C	ENSP00000440179.1:p.Gly164Arg
ENST00000542167.2:c.406G>C	ENSP00000438948.1:p.Gly136Arg
ENST00000543754.1:n.386G>C
NM_001002019.2:c.481G>C	NP_001002019.1:p.Gly161Arg
NM_001002020.2:c.481G>C	NP_001002020.1:p.Gly161Arg
NM_025215.5:c.565G>C	NP_079491.2:p.Gly189Arg
XM_011538768.1:c.166G>C	XP_011537070.1:p.Gly56Arg
XM_011538768.3:c.166G>C	XP_011537070.1:p.Gly56Arg
XR_001748872.1:n.1020G>C
NM_001002019.3:c.481G>C	NP_001002019.1:p.Gly161Arg
NM_001002020.3:c.481G>C	NP_001002020.1:p.Gly161Arg
NM_025215.6:c.565G>C MANE Select	NP_079491.2:p.Gly189Arg