Canonical Allele Identifier: CA2694407240
Gene: PRPS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107639286T>G , CM000685.2:g.107639286T>G GRCh38
NC_000023.10:g.106882516T>G , CM000685.1:g.106882516T>G GRCh37
NC_000023.9:g.106769172T>G NCBI36
NG_008407.1:g.15863T>G , LRG_264:g.15863T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372418.4:c.123-9T>G ENSP00000361495.2:n.123-9T>G
ENST00000372435.10:c.123-9T>G MANE Select ENSP00000361512.4:n.123-9T>G
ENST00000643795.2:c.123-9T>G ENSP00000496286.1:n.123-9T>G
ENST00000644642.1:c.123-5891T>G ENSP00000495493.1:n.123-5891T>G
ENST00000645638.1:c.*92-9T>G ENSP00000496554.1:n.*92-9T>G
ENST00000645903.1:n.217-9T>G
ENST00000674525.1:n.208-9T>G
ENST00000674826.1:c.123-1616T>G ENSP00000502278.1:n.123-1616T>G
ENST00000674843.1:c.225-9T>G ENSP00000502260.1:n.225-9T>G
ENST00000675304.1:n.56-9T>G
ENST00000676092.1:c.123-9T>G ENSP00000502780.1:n.123-9T>G
ENST00000372419.3:c.123-9T>G ENSP00000361496.3:n.123-9T>G
ENST00000372428.8:c.-82-5891T>G ENSP00000361505.5:n.-82-5891T>G
ENST00000372435.8:c.123-9T>G ENSP00000361512.4:n.123-9T>G
NM_001204402.1:c.-82-5891T>G NP_001191331.1:n.-82-5891T>G
NM_002764.3:c.123-9T>G , LRG_264t1:c.123-9T>G NP_002755.1:n.123-9T>G
NM_002764.4:c.123-9T>G MANE Select NP_002755.1:n.123-9T>G
NM_001204402.2:c.-82-5891T>G NP_001191331.1:n.-82-5891T>G