Canonical Allele Identifier: CA658683637

Linked Data

ClinVar Variation Id: 488925
ClinVar RCV Id: RCV000578807
dbSNP Id: rs1554889977

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863621C>T , CM000672.2:g.87863621C>T GRCh38
NC_000010.10:g.89623378C>T , CM000672.1:g.89623378C>T GRCh37
NC_000010.9:g.89613358C>T NCBI36
NG_007466.2:g.5184C>T , LRG_311:g.5184C>T
NG_033079.1:g.4817G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-833C>T (PTEN) ENSP00000516674.1:n.-16-833C>T
ENST00000688308.1:c.-17+508C>T (PTEN) ENSP00000508752.1:n.-17+508C>T
ENST00000692337.1:c.63C>T (MLDHR) ENSP00000509326.1:p.Arg21=
ENST00000693560.1:c.-329C>T (PTEN) ENSP00000509861.1:n.-329C>T
ENST00000371953.7:c.-849C>T (PTEN) ENSP00000361021.3:n.-849C>T
ENST00000610634.1:c.-951C>T (PTEN) ENSP00000477517.1:n.-951C>T
NM_000314.5:c.-848C>T (PTEN) NP_000305.3:n.-848C>T
NM_000314.6:c.-848C>T (PTEN) NP_000305.3:n.-848C>T
NM_001304717.2:c.-329C>T (PTEN) NP_001291646.2:n.-329C>T
NM_001304718.1:c.-1553C>T (PTEN) NP_001291647.1:n.-1553C>T