Canonical Allele Identifier: CA351619
Gene: PUS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.131941630C>T
GRCh37 chr12:g.132426175C>T
Revel Score:
ENST00000443358 0.956
ENST00000376649 (MANE Select) 0.956
ENST00000322060 0.956
ENST00000440818 0.956
ENST00000542167 0.956
gnomAD v2:
12:132426175 C / T
gnomAD v3:
12:131941630 C / T
gnomAD v4:
chr12-131941630-C-T
Joint Max Group AF 0.00001327 (AMR)
Exomes Max Group AF 0.00001779 (AMR)
ClinVar RCV:
RCV000207447
ClinVar Variation:
221982
dbSNP:
869025309
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131941630C>T , CM000674.2:g.131941630C>T GRCh38
NC_000012.11:g.132426175C>T , CM000674.1:g.132426175C>T GRCh37
NC_000012.10:g.130992128C>T NCBI36
NG_013039.1:g.17431C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376649.8:c.883C>T MANE Select ENSP00000365837.3:p.Arg295Trp
ENST00000322060.9:c.799C>T ENSP00000324726.5:p.Arg267Trp
ENST00000376649.7:c.883C>T ENSP00000365837.3:p.Arg295Trp
ENST00000443358.6:c.799C>T ENSP00000392451.2:p.Arg267Trp
ENST00000535067.5:c.358-1909C>T ENSP00000443969.1:n.358-1909C>T
ENST00000542167.2:c.724C>T ENSP00000438948.1:p.Arg242Trp
ENST00000543754.1:n.704C>T
NM_001002019.2:c.799C>T NP_001002019.1:p.Arg267Trp
NM_001002020.2:c.799C>T NP_001002020.1:p.Arg267Trp
NM_025215.5:c.883C>T NP_079491.2:p.Arg295Trp
XM_011538768.1:c.484C>T XP_011537070.1:p.Arg162Trp
XM_011538768.3:c.484C>T XP_011537070.1:p.Arg162Trp
XR_001748872.1:n.1338C>T
NM_001002019.3:c.799C>T NP_001002019.1:p.Arg267Trp
NM_001002020.3:c.799C>T NP_001002020.1:p.Arg267Trp
NM_025215.6:c.883C>T MANE Select NP_079491.2:p.Arg295Trp
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