Canonical Allele Identifier: CA254947
Gene: PRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9939
dbSNP Id: rs180177152

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107639431G>A , CM000685.2:g.107639431G>A GRCh38
NC_000023.10:g.106882661G>A , CM000685.1:g.106882661G>A GRCh37
NC_000023.9:g.106769317G>A NCBI36
NG_008407.1:g.16008G>A , LRG_264:g.16008G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372418.4:c.259G>A ENSP00000361495.2:p.Ala87Thr
ENST00000372435.10:c.259G>A MANE Select ENSP00000361512.4:p.Ala87Thr
ENST00000643795.2:c.259G>A ENSP00000496286.1:p.Ala87Thr
ENST00000644642.1:c.123-5746G>A ENSP00000495493.1:n.123-5746G>A
ENST00000645638.1:c.*228G>A ENSP00000496554.1:n.*228G>A
ENST00000645903.1:n.353G>A
ENST00000674525.1:n.344G>A
ENST00000674826.1:c.123-1471G>A ENSP00000502278.1:n.123-1471G>A
ENST00000674843.1:c.361G>A ENSP00000502260.1:n.361G>A
ENST00000675046.1:c.137G>A
ENST00000675304.1:n.192G>A
ENST00000675720.1:c.137G>A
ENST00000676092.1:c.259G>A ENSP00000502780.1:p.Ala87Thr
ENST00000372418.2:c.58G>A ENSP00000361495.1:p.Ala20Thr
ENST00000372419.3:c.259G>A ENSP00000361496.3:p.Ala87Thr
ENST00000372428.8:c.-82-5746G>A ENSP00000361505.5:n.-82-5746G>A
ENST00000372435.8:c.259G>A ENSP00000361512.4:p.Ala87Thr
NM_001204402.1:c.-82-5746G>A NP_001191331.1:n.-82-5746G>A
NM_002764.3:c.259G>A , LRG_264t1:c.259G>A NP_002755.1:p.Ala87Thr
NM_002764.4:c.259G>A MANE Select NP_002755.1:p.Ala87Thr
NM_001204402.2:c.-82-5746G>A NP_001191331.1:n.-82-5746G>A