Canonical Allele Identifier: CA413812308

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 446163
• ClinVar RCV Id: RCV000590916 ; RCV001075877 ; RCV001196872 ; RCV001865690 ; RCV001542719
• dbSNP Id: rs1556300621
• gnomAD v4: X-107645286-C-T
• MyVariant Identifiers: chrX:g.106888516C>T (hg19) ; chrX:g.107645286C>T (hg38)
• PubMed: PMID:28967191

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107645286C>T , CM000685.2:g.107645286C>T	GRCh38
NC_000023.10:g.106888516C>T , CM000685.1:g.106888516C>T	GRCh37
NC_000023.9:g.106775172C>T	NCBI36
NG_008407.1:g.21863C>T , LRG_264:g.21863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.541C>T	ENSP00000361495.2:p.Arg181Trp
ENST00000372435.10:c.640C>T MANE Select	ENSP00000361512.4:p.Arg214Trp
ENST00000643795.2:c.640C>T	ENSP00000496286.1:p.Arg214Trp
ENST00000644642.1:c.*109C>T	ENSP00000495493.1:n.*109C>T
ENST00000674525.1:n.600C>T
ENST00000674826.1:c.*333C>T	ENSP00000502278.1:n.*333C>T
ENST00000675046.1:c.294C>T
ENST00000675082.1:c.126-2320C>T	ENSP00000502347.1:n.126-2320C>T
ENST00000675124.1:c.303C>T	ENSP00000502439.1:n.303C>T
ENST00000675353.1:c.110C>T
ENST00000675630.1:c.299C>T	ENSP00000502050.1:n.299C>T
ENST00000675720.1:c.516C>T
ENST00000675875.1:c.21+89C>T
ENST00000675921.1:c.214C>T	ENSP00000502707.1:p.Arg72Trp
ENST00000676092.1:c.358+4333C>T	ENSP00000502780.1:n.358+4333C>T
ENST00000676365.1:c.110C>T
ENST00000372418.2:c.340C>T	ENSP00000361495.1:p.Arg114Trp
ENST00000372428.8:c.28C>T	ENSP00000361505.5:p.Arg10Trp
ENST00000372435.8:c.640C>T	ENSP00000361512.4:p.Arg214Trp
NM_001204402.1:c.28C>T	NP_001191331.1:p.Arg10Trp
NM_002764.3:c.640C>T , LRG_264t1:c.640C>T	NP_002755.1:p.Arg214Trp
NM_002764.4:c.640C>T MANE Select	NP_002755.1:p.Arg214Trp
NM_001204402.2:c.28C>T	NP_001191331.1:p.Arg10Trp