Canonical Allele Identifier: CA517920826
Gene: PRPS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.106882570T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107639340T>G , CM000685.2:g.107639340T>G GRCh38
NC_000023.10:g.106882570T>G , CM000685.1:g.106882570T>G GRCh37
NC_000023.9:g.106769226T>G NCBI36
NG_008407.1:g.15917T>G , LRG_264:g.15917T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372418.4:c.168T>G ENSP00000361495.2:p.Val56=
ENST00000372435.10:c.168T>G MANE Select ENSP00000361512.4:p.Val56=
ENST00000643795.2:c.168T>G ENSP00000496286.1:p.Val56=
ENST00000644642.1:c.123-5837T>G ENSP00000495493.1:n.123-5837T>G
ENST00000645638.1:c.*137T>G ENSP00000496554.1:n.*137T>G
ENST00000645903.1:n.262T>G
ENST00000674525.1:n.253T>G
ENST00000674826.1:c.123-1562T>G ENSP00000502278.1:n.123-1562T>G
ENST00000674843.1:c.270T>G ENSP00000502260.1:n.270T>G
ENST00000675046.1:c.46T>G
ENST00000675304.1:n.101T>G
ENST00000675720.1:c.46T>G
ENST00000676092.1:c.168T>G ENSP00000502780.1:p.Val56=
ENST00000372419.3:c.168T>G ENSP00000361496.3:p.Val56=
ENST00000372428.8:c.-82-5837T>G ENSP00000361505.5:n.-82-5837T>G
ENST00000372435.8:c.168T>G ENSP00000361512.4:p.Val56=
NM_001204402.1:c.-82-5837T>G NP_001191331.1:n.-82-5837T>G
NM_002764.3:c.168T>G , LRG_264t1:c.168T>G NP_002755.1:p.Val56=
NM_002764.4:c.168T>G MANE Select NP_002755.1:p.Val56=
NM_001204402.2:c.-82-5837T>G NP_001191331.1:n.-82-5837T>G