Canonical Allele Identifier: CA413806127

Gene: PRPS1

Linked Data

• ClinVar Variation Id: 520913
• ClinVar RCV Id: RCV000623501 ; RCV003992348
• dbSNP Id: rs1556299881
• MyVariant Identifiers: chrX:g.106884130A>G (hg19) ; chrX:g.107640900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107640900A>G , CM000685.2:g.107640900A>G	GRCh38
NC_000023.10:g.106884130A>G , CM000685.1:g.106884130A>G	GRCh37
NC_000023.9:g.106770786A>G	NCBI36
NG_008407.1:g.17477A>G , LRG_264:g.17477A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.306+1422A>G	ENSP00000361495.2:n.306+1422A>G
ENST00000372435.10:c.307-2A>G MANE Select	ENSP00000361512.4:n.307-2A>G
ENST00000643795.2:c.307-2A>G	ENSP00000496286.1:n.307-2A>G
ENST00000644642.1:c.123-4277A>G	ENSP00000495493.1:n.123-4277A>G
ENST00000645638.1:c.*276-2A>G	ENSP00000496554.1:n.*276-2A>G
ENST00000645903.1:n.401-2A>G
ENST00000674525.1:n.392-2A>G
ENST00000674826.1:c.123-2A>G	ENSP00000502278.1:n.123-2A>G
ENST00000675046.1:c.184+1422A>G
ENST00000675720.1:c.185-4A>G
ENST00000676092.1:c.307-2A>G	ENSP00000502780.1:n.307-2A>G
ENST00000372418.2:c.105+1422A>G	ENSP00000361495.1:n.105+1422A>G
ENST00000372419.3:c.307-2A>G	ENSP00000361496.3:n.307-2A>G
ENST00000372428.8:c.-82-4277A>G	ENSP00000361505.5:n.-82-4277A>G
ENST00000372435.8:c.307-2A>G	ENSP00000361512.4:n.307-2A>G
NM_001204402.1:c.-82-4277A>G	NP_001191331.1:n.-82-4277A>G
NM_002764.3:c.307-2A>G , LRG_264t1:c.307-2A>G	NP_002755.1:n.307-2A>G
NM_002764.4:c.307-2A>G MANE Select	NP_002755.1:n.307-2A>G
NM_001204402.2:c.-82-4277A>G	NP_001191331.1:n.-82-4277A>G