Canonical Allele Identifier: CA000616

Linked Data

ClinVar Variation Id: 189495
ClinVar RCV Id: RCV000169885
dbSNP Id: rs587782133

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863601G>T , CM000672.2:g.87863601G>T GRCh38
NC_000010.10:g.89623358G>T , CM000672.1:g.89623358G>T GRCh37
NC_000010.9:g.89613338G>T NCBI36
NG_007466.2:g.5164G>T , LRG_311:g.5164G>T
NG_033079.1:g.4837C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-853G>T (PTEN) ENSP00000516674.1:n.-16-853G>T
ENST00000688308.1:c.-17+488G>T (PTEN) ENSP00000508752.1:n.-17+488G>T
ENST00000692337.1:c.43G>T (MLDHR) ENSP00000509326.1:p.Gly15Cys
ENST00000693560.1:c.-349G>T (PTEN) ENSP00000509861.1:n.-349G>T
ENST00000371953.7:c.-869G>T (PTEN) ENSP00000361021.3:n.-869G>T
ENST00000610634.1:c.-971G>T (PTEN) ENSP00000477517.1:n.-971G>T
NM_000314.5:c.-868G>T (PTEN) NP_000305.3:n.-868G>T
NM_000314.6:c.-868G>T (PTEN) NP_000305.3:n.-868G>T
NM_001304717.2:c.-349G>T (PTEN) NP_001291646.2:n.-349G>T
NM_001304718.1:c.-1573G>T (PTEN) NP_001291647.1:n.-1573G>T