Canonical Allele Identifier: CA254951
Gene: PRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9941
ClinVar RCV Id: RCV000010619
dbSNP Id: rs180177153

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107649944T>C , CM000685.2:g.107649944T>C GRCh38
NC_000023.10:g.106893174T>C , CM000685.1:g.106893174T>C GRCh37
NC_000023.9:g.106779830T>C NCBI36
NG_008407.1:g.26521T>C , LRG_264:g.26521T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372418.4:c.770T>C ENSP00000361495.2:p.Ile257Thr
ENST00000372428.9:c.252T>C
ENST00000372435.10:c.869T>C MANE Select ENSP00000361512.4:p.Ile290Thr
ENST00000643795.2:c.802-634T>C ENSP00000496286.1:n.802-634T>C
ENST00000644642.1:c.*338T>C ENSP00000495493.1:n.*338T>C
ENST00000674826.1:c.*562T>C ENSP00000502278.1:n.*562T>C
ENST00000675263.1:c.5T>C ENSP00000502081.1:p.Ile2Thr
ENST00000675353.1:c.461T>C
ENST00000675875.1:c.22-672T>C
ENST00000676092.1:c.363T>C ENSP00000502780.1:p.Asp121=
ENST00000676322.1:c.5T>C ENSP00000501977.1:p.Ile2Thr
ENST00000676365.1:c.437T>C
ENST00000372418.2:c.569T>C ENSP00000361495.1:p.Ile190Thr
ENST00000372428.8:c.257T>C ENSP00000361505.5:p.Ile86Thr
ENST00000372435.8:c.869T>C ENSP00000361512.4:p.Ile290Thr
NM_001204402.1:c.257T>C NP_001191331.1:p.Ile86Thr
NM_002764.3:c.869T>C , LRG_264t1:c.869T>C NP_002755.1:p.Ile290Thr
NM_002764.4:c.869T>C MANE Select NP_002755.1:p.Ile290Thr
NM_001204402.2:c.257T>C NP_001191331.1:p.Ile86Thr