Canonical Allele Identifier: CA413815736

Gene: PRPS1

Linked Data

• dbSNP Id: rs1329498181
• gnomAD v2: X-106893168-A-C
• MyVariant Identifiers: chrX:g.106893168A>C (hg19) ; chrX:g.107649938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107649938A>C , CM000685.2:g.107649938A>C	GRCh38
NC_000023.10:g.106893168A>C , CM000685.1:g.106893168A>C	GRCh37
NC_000023.9:g.106779824A>C	NCBI36
NG_008407.1:g.26515A>C , LRG_264:g.26515A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372418.4:c.766-2A>C	ENSP00000361495.2:n.766-2A>C
ENST00000372428.9:c.248-2A>C
ENST00000372435.10:c.865-2A>C MANE Select	ENSP00000361512.4:n.865-2A>C
ENST00000643795.2:c.802-640A>C	ENSP00000496286.1:n.802-640A>C
ENST00000644642.1:c.*334-2A>C	ENSP00000495493.1:n.*334-2A>C
ENST00000674826.1:c.*558-2A>C	ENSP00000502278.1:n.*558-2A>C
ENST00000675353.1:c.457-2A>C
ENST00000675875.1:c.22-678A>C
ENST00000676092.1:c.359-2A>C	ENSP00000502780.1:n.359-2A>C
ENST00000676365.1:c.433-2A>C
ENST00000372418.2:c.565-2A>C	ENSP00000361495.1:n.565-2A>C
ENST00000372428.8:c.253-2A>C	ENSP00000361505.5:n.253-2A>C
ENST00000372435.8:c.865-2A>C	ENSP00000361512.4:n.865-2A>C
NM_001204402.1:c.253-2A>C	NP_001191331.1:n.253-2A>C
NM_002764.3:c.865-2A>C , LRG_264t1:c.865-2A>C	NP_002755.1:n.865-2A>C
NM_002764.4:c.865-2A>C MANE Select	NP_002755.1:n.865-2A>C
NM_001204402.2:c.253-2A>C	NP_001191331.1:n.253-2A>C