Canonical Allele Identifier: CA645606050

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 1646272
• ClinVar RCV Id: RCV002136405
• dbSNP Id: rs1226197511
• gnomAD v3: X-107639289-T-C
• gnomAD v4: X-107639289-T-C
• COSMIC: COSM3719686 ; COSM3719687
• MyVariant Identifiers: chrX:g.106882519T>C (hg19) ; chrX:g.107639289T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639289T>C , CM000685.2:g.107639289T>C	GRCh38
NC_000023.10:g.106882519T>C , CM000685.1:g.106882519T>C	GRCh37
NC_000023.9:g.106769175T>C	NCBI36
NG_008407.1:g.15866T>C , LRG_264:g.15866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.123-6T>C	ENSP00000361495.2:n.123-6T>C
ENST00000372435.10:c.123-6T>C MANE Select	ENSP00000361512.4:n.123-6T>C
ENST00000643795.2:c.123-6T>C	ENSP00000496286.1:n.123-6T>C
ENST00000644642.1:c.123-5888T>C	ENSP00000495493.1:n.123-5888T>C
ENST00000645638.1:c.*92-6T>C	ENSP00000496554.1:n.*92-6T>C
ENST00000645903.1:n.217-6T>C
ENST00000674525.1:n.208-6T>C
ENST00000674826.1:c.123-1613T>C	ENSP00000502278.1:n.123-1613T>C
ENST00000674843.1:c.225-6T>C	ENSP00000502260.1:n.225-6T>C
ENST00000675304.1:n.56-6T>C
ENST00000676092.1:c.123-6T>C	ENSP00000502780.1:n.123-6T>C
ENST00000372419.3:c.123-6T>C	ENSP00000361496.3:n.123-6T>C
ENST00000372428.8:c.-82-5888T>C	ENSP00000361505.5:n.-82-5888T>C
ENST00000372435.8:c.123-6T>C	ENSP00000361512.4:n.123-6T>C
NM_001204402.1:c.-82-5888T>C	NP_001191331.1:n.-82-5888T>C
NM_002764.3:c.123-6T>C , LRG_264t1:c.123-6T>C	NP_002755.1:n.123-6T>C
NM_002764.4:c.123-6T>C MANE Select	NP_002755.1:n.123-6T>C
NM_001204402.2:c.-82-5888T>C	NP_001191331.1:n.-82-5888T>C