Canonical Allele Identifier: CA3008097434
Community Standard Title: NM_002764.4(PRPS1):c.865-87T>A
Gene: PRPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.107649853T>A , CM000685.2:g.107649853T>A GRCh38
NC_000023.10:g.106893083T>A , CM000685.1:g.106893083T>A GRCh37
NC_000023.9:g.106779739T>A NCBI36
NG_008407.1:g.26430T>A , LRG_264:g.26430T>A

Transcript Alleles

HGVS Amino-acid Change
NM_002764.4:c.865-87T>A MANE Select NP_002755.1:n.865-87T>A
ENST00000372435.10:c.865-87T>A MANE Select ENSP00000361512.4:n.865-87T>A
NM_001204402.1:c.253-87T>A NP_001191331.1:n.253-87T>A
NM_001204402.2:c.253-87T>A NP_001191331.1:n.253-87T>A
NM_002764.3:c.865-87T>A , LRG_264t1:c.865-87T>A NP_002755.1:n.865-87T>A
ENST00000372418.2:c.565-87T>A ENSP00000361495.1:n.565-87T>A
ENST00000372418.4:c.766-87T>A ENSP00000361495.2:n.766-87T>A
ENST00000372428.8:c.253-87T>A ENSP00000361505.5:n.253-87T>A
ENST00000372428.9:c.248-87T>A
ENST00000372435.8:c.865-87T>A ENSP00000361512.4:n.865-87T>A
ENST00000643795.2:c.802-725T>A ENSP00000496286.1:n.802-725T>A
ENST00000644642.1:c.*334-87T>A ENSP00000495493.1:n.*334-87T>A
ENST00000674826.1:c.*558-87T>A ENSP00000502278.1:n.*558-87T>A
ENST00000675353.1:c.457-87T>A
ENST00000675875.1:c.22-763T>A
ENST00000676092.1:c.359-87T>A ENSP00000502780.1:n.359-87T>A
ENST00000676365.1:c.433-87T>A