Canonical Allele Identifier: CA413811603

Gene: PRPS1

Linked Data

• MyVariant Identifiers: chrX:g.106888447T>A (hg19) ; chrX:g.107645217T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107645217T>A , CM000685.2:g.107645217T>A	GRCh38
NC_000023.10:g.106888447T>A , CM000685.1:g.106888447T>A	GRCh37
NC_000023.9:g.106775103T>A	NCBI36
NG_008407.1:g.21794T>A , LRG_264:g.21794T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372418.4:c.472T>A	ENSP00000361495.2:p.Leu158Met
ENST00000372435.10:c.571T>A MANE Select	ENSP00000361512.4:p.Leu191Met
ENST00000643795.2:c.571T>A	ENSP00000496286.1:p.Leu191Met
ENST00000644642.1:c.*40T>A	ENSP00000495493.1:n.*40T>A
ENST00000674525.1:n.531T>A
ENST00000674826.1:c.*264T>A	ENSP00000502278.1:n.*264T>A
ENST00000675046.1:c.225T>A
ENST00000675082.1:c.126-2389T>A	ENSP00000502347.1:n.126-2389T>A
ENST00000675124.1:c.234T>A	ENSP00000502439.1:n.234T>A
ENST00000675353.1:c.41T>A
ENST00000675630.1:c.230T>A	ENSP00000502050.1:n.230T>A
ENST00000675720.1:c.447T>A
ENST00000675875.1:c.21+20T>A
ENST00000675921.1:c.145T>A	ENSP00000502707.1:p.Leu49Met
ENST00000676092.1:c.358+4264T>A	ENSP00000502780.1:n.358+4264T>A
ENST00000676365.1:c.41T>A
ENST00000372418.2:c.271T>A	ENSP00000361495.1:p.Leu91Met
ENST00000372428.8:c.-42T>A	ENSP00000361505.5:n.-42T>A
ENST00000372435.8:c.571T>A	ENSP00000361512.4:p.Leu191Met
NM_001204402.1:c.-42T>A	NP_001191331.1:n.-42T>A
NM_002764.3:c.571T>A , LRG_264t1:c.571T>A	NP_002755.1:p.Leu191Met
NM_002764.4:c.571T>A MANE Select	NP_002755.1:p.Leu191Met
NM_001204402.2:c.-42T>A	NP_001191331.1:n.-42T>A