Canonical Allele Identifier: CA2499220442
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1216522
ClinVar RCV Id: RCV001586903
dbSNP Id: rs1554889928
gnomAD v4: 10-87863554-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863554C>A , CM000672.2:g.87863554C>A GRCh38
NC_000010.10:g.89623311C>A , CM000672.1:g.89623311C>A GRCh37
NC_000010.9:g.89613291C>A NCBI36
NG_007466.2:g.5117C>A , LRG_311:g.5117C>A
NG_033079.1:g.4884G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-900C>A ENSP00000516674.1:n.-16-900C>A
ENST00000688308.1:c.-17+441C>A ENSP00000508752.1:n.-17+441C>A
ENST00000693560.1:c.-396C>A ENSP00000509861.1:n.-396C>A
ENST00000371953.7:c.-916C>A ENSP00000361021.3:n.-916C>A
ENST00000610634.1:c.-1018C>A ENSP00000477517.1:n.-1018C>A
NM_000314.5:c.-915C>A NP_000305.3:n.-915C>A
NM_000314.6:c.-915C>A NP_000305.3:n.-915C>A
NM_001304717.2:c.-396C>A NP_001291646.2:n.-396C>A
NM_001304718.1:c.-1620C>A NP_001291647.1:n.-1620C>A
Search 100 bp 5'
Search 100 bp 3'