Canonical Allele Identifier: CA340958
Gene: PRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9934
ClinVar RCV Id: RCV000010612
dbSNP Id: rs80338731
MyVariant Identifiers: chrX:g.106882531A>C (hg19) chrX:g.107639301A>C (hg38)
PubMed: PMID:17701900 PMID:20301731
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107639301A>C , CM000685.2:g.107639301A>C GRCh38
NC_000023.10:g.106882531A>C , CM000685.1:g.106882531A>C GRCh37
NC_000023.9:g.106769187A>C NCBI36
NG_008407.1:g.15878A>C , LRG_264:g.15878A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372418.4:c.129A>C ENSP00000361495.2:p.Glu43Asp
ENST00000372435.10:c.129A>C MANE Select ENSP00000361512.4:p.Glu43Asp
ENST00000643795.2:c.129A>C ENSP00000496286.1:p.Glu43Asp
ENST00000644642.1:c.123-5876A>C ENSP00000495493.1:n.123-5876A>C
ENST00000645638.1:c.*98A>C ENSP00000496554.1:n.*98A>C
ENST00000645903.1:n.223A>C
ENST00000674525.1:n.214A>C
ENST00000674826.1:c.123-1601A>C ENSP00000502278.1:n.123-1601A>C
ENST00000674843.1:c.231A>C ENSP00000502260.1:n.231A>C
ENST00000675046.1:c.7A>C
ENST00000675304.1:n.62A>C
ENST00000675720.1:c.7A>C
ENST00000676092.1:c.129A>C ENSP00000502780.1:p.Glu43Asp
ENST00000372419.3:c.129A>C ENSP00000361496.3:p.Glu43Asp
ENST00000372428.8:c.-82-5876A>C ENSP00000361505.5:n.-82-5876A>C
ENST00000372435.8:c.129A>C ENSP00000361512.4:p.Glu43Asp
NM_001204402.1:c.-82-5876A>C NP_001191331.1:n.-82-5876A>C
NM_002764.3:c.129A>C , LRG_264t1:c.129A>C NP_002755.1:p.Glu43Asp
NM_002764.4:c.129A>C MANE Select NP_002755.1:p.Glu43Asp
NM_001204402.2:c.-82-5876A>C NP_001191331.1:n.-82-5876A>C
Search 100 bp 5'
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