Canonical Allele Identifier: CA254939

Gene: PRPS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107640980C>A , CM000685.2:g.107640980C>A	GRCh38
NC_000023.10:g.106884210C>A , CM000685.1:g.106884210C>A	GRCh37
NC_000023.9:g.106770866C>A	NCBI36
NG_008407.1:g.17557C>A , LRG_264:g.17557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.307-1386C>A	ENSP00000361495.2:n.307-1386C>A
ENST00000372435.10:c.385C>A MANE Select	ENSP00000361512.4:p.Leu129Ile
ENST00000643795.2:c.385C>A	ENSP00000496286.1:p.Leu129Ile
ENST00000644642.1:c.123-4197C>A	ENSP00000495493.1:n.123-4197C>A
ENST00000645903.1:n.479C>A
ENST00000674525.1:n.470C>A
ENST00000674826.1:c.*78C>A	ENSP00000502278.1:n.*78C>A
ENST00000675046.1:c.184+1502C>A
ENST00000675720.1:c.261C>A
ENST00000676092.1:c.358+27C>A	ENSP00000502780.1:n.358+27C>A
ENST00000372418.2:c.106-1386C>A	ENSP00000361495.1:n.106-1386C>A
ENST00000372419.3:c.385C>A	ENSP00000361496.3:p.Leu129Ile
ENST00000372428.8:c.-82-4197C>A	ENSP00000361505.5:n.-82-4197C>A
ENST00000372435.8:c.385C>A	ENSP00000361512.4:p.Leu129Ile
NM_001204402.1:c.-82-4197C>A	NP_001191331.1:n.-82-4197C>A
NM_002764.3:c.385C>A , LRG_264t1:c.385C>A	NP_002755.1:p.Leu129Ile
NM_002764.4:c.385C>A MANE Select	NP_002755.1:p.Leu129Ile
NM_001204402.2:c.-82-4197C>A	NP_001191331.1:n.-82-4197C>A