Canonical Allele Identifier: CA658683623
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 488719
ClinVar RCV Id: RCV000578958
dbSNP Id: rs1554889924

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863540G>A , CM000672.2:g.87863540G>A GRCh38
NC_000010.10:g.89623297G>A , CM000672.1:g.89623297G>A GRCh37
NC_000010.9:g.89613277G>A NCBI36
NG_007466.2:g.5103G>A , LRG_311:g.5103G>A
NG_033079.1:g.4898C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+898G>A ENSP00000516674.1:n.-17+898G>A
ENST00000688308.1:c.-17+427G>A ENSP00000508752.1:n.-17+427G>A
ENST00000693560.1:c.-410G>A ENSP00000509861.1:n.-410G>A
ENST00000371953.7:c.-930G>A ENSP00000361021.3:n.-930G>A
ENST00000610634.1:c.-1032G>A ENSP00000477517.1:n.-1032G>A
NM_000314.5:c.-929G>A NP_000305.3:n.-929G>A
NM_000314.6:c.-929G>A NP_000305.3:n.-929G>A
NM_001304717.2:c.-410G>A NP_001291646.2:n.-410G>A
NM_001304718.1:c.-1634G>A NP_001291647.1:n.-1634G>A