Canonical Allele Identifier: CA413804461

Gene: PRPS1

Linked Data

• gnomAD v4: X-107639329-G-A
• MyVariant Identifiers: chrX:g.106882559G>A (hg19) ; chrX:g.107639329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639329G>A , CM000685.2:g.107639329G>A	GRCh38
NC_000023.10:g.106882559G>A , CM000685.1:g.106882559G>A	GRCh37
NC_000023.9:g.106769215G>A	NCBI36
NG_008407.1:g.15906G>A , LRG_264:g.15906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.157G>A	ENSP00000361495.2:p.Val53Ile
ENST00000372435.10:c.157G>A MANE Select	ENSP00000361512.4:p.Val53Ile
ENST00000643795.2:c.157G>A	ENSP00000496286.1:p.Val53Ile
ENST00000644642.1:c.123-5848G>A	ENSP00000495493.1:n.123-5848G>A
ENST00000645638.1:c.*126G>A	ENSP00000496554.1:n.*126G>A
ENST00000645903.1:n.251G>A
ENST00000674525.1:n.242G>A
ENST00000674826.1:c.123-1573G>A	ENSP00000502278.1:n.123-1573G>A
ENST00000674843.1:c.259G>A	ENSP00000502260.1:n.259G>A
ENST00000675046.1:c.35G>A
ENST00000675304.1:n.90G>A
ENST00000675720.1:c.35G>A
ENST00000676092.1:c.157G>A	ENSP00000502780.1:p.Val53Ile
ENST00000372419.3:c.157G>A	ENSP00000361496.3:p.Val53Ile
ENST00000372428.8:c.-82-5848G>A	ENSP00000361505.5:n.-82-5848G>A
ENST00000372435.8:c.157G>A	ENSP00000361512.4:p.Val53Ile
NM_001204402.1:c.-82-5848G>A	NP_001191331.1:n.-82-5848G>A
NM_002764.3:c.157G>A , LRG_264t1:c.157G>A	NP_002755.1:p.Val53Ile
NM_002764.4:c.157G>A MANE Select	NP_002755.1:p.Val53Ile
NM_001204402.2:c.-82-5848G>A	NP_001191331.1:n.-82-5848G>A