Canonical Allele Identifier: CA2450373708
Gene: PRPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107640936A= , CM000685.2:g.107640936A= GRCh38
NC_000023.10:g.106884166A= , CM000685.1:g.106884166A= GRCh37
NC_000023.9:g.106770822A= NCBI36
NG_008407.1:g.17513A= , LRG_264:g.17513A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372418.4:c.307-1430A= ENSP00000361495.2:n.307-1430A=
ENST00000372435.10:c.341A= MANE Select ENSP00000361512.4:p.Asn114=
ENST00000643795.2:c.341A= ENSP00000496286.1:p.Asn114=
ENST00000644642.1:c.123-4241A= ENSP00000495493.1:n.123-4241A=
ENST00000645903.1:n.435A=
ENST00000674525.1:n.426A=
ENST00000674826.1:c.*34A= ENSP00000502278.1:n.*34A=
ENST00000675046.1:c.184+1458A=
ENST00000675720.1:c.217A=
ENST00000676092.1:c.341A= ENSP00000502780.1:p.Asn114=
ENST00000372418.2:c.106-1430A= ENSP00000361495.1:n.106-1430A=
ENST00000372419.3:c.341A= ENSP00000361496.3:p.Asn114=
ENST00000372428.8:c.-82-4241A= ENSP00000361505.5:n.-82-4241A=
ENST00000372435.8:c.341A= ENSP00000361512.4:p.Asn114=
NM_001204402.1:c.-82-4241A= NP_001191331.1:n.-82-4241A=
NM_002764.3:c.341A= , LRG_264t1:c.341A= NP_002755.1:p.Asn114=
NM_002764.4:c.341A= MANE Select NP_002755.1:p.Asn114=
NM_001204402.2:c.-82-4241A= NP_001191331.1:n.-82-4241A=