Canonical Allele Identifier: CA000567
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 7844
ClinVar RCV Id: RCV000008294 RCV000169801 RCV000230941 RCV000763685 RCV002390095 RCV003114178
dbSNP Id: rs587776674
gnomAD v2: 10-89623462-G-A
gnomAD v3: 10-87863705-G-A
gnomAD v4: 10-87863705-G-A
MyVariant Identifiers: chr10:g.89623462G>A (hg19) chr10:g.87863705G>A (hg38)
ERepo: CA000567/MONDO:0017623/003
PubMed: PMID:12844284 PMID:17847000
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863705G>A , CM000672.2:g.87863705G>A GRCh38
NC_000010.10:g.89623462G>A , CM000672.1:g.89623462G>A GRCh37
NC_000010.9:g.89613442G>A NCBI36
NG_007466.2:g.5268G>A , LRG_311:g.5268G>A
NG_033079.1:g.4733C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.-765G>A ENSP00000514759.2:n.-765G>A
ENST00000710265.1:c.-765G>A ENSP00000518161.1:n.-765G>A
ENST00000706954.1:c.-16-749G>A ENSP00000516674.1:n.-16-749G>A
ENST00000706955.1:c.-765G>A ENSP00000516675.1:n.-765G>A
ENST00000688158.1:c.-765G>A ENSP00000509254.1:n.-765G>A
ENST00000688308.1:c.-17+592G>A ENSP00000508752.1:n.-17+592G>A
ENST00000693560.1:c.-245G>A ENSP00000509861.1:n.-245G>A
ENST00000371953.8:c.-765G>A MANE Select ENSP00000361021.3:n.-765G>A
ENST00000371953.7:c.-765G>A ENSP00000361021.3:n.-765G>A
ENST00000610634.1:c.-867G>A ENSP00000477517.1:n.-867G>A
NM_000314.5:c.-764G>A NP_000305.3:n.-764G>A
NM_000314.6:c.-764G>A NP_000305.3:n.-764G>A
NM_001304717.2:c.-245G>A NP_001291646.2:n.-245G>A
NM_001304718.1:c.-1469G>A NP_001291647.1:n.-1469G>A
NM_000314.7:c.-764G>A NP_000305.3:n.-764G>A
NM_001304717.5:c.-245G>A NP_001291646.4:n.-245G>A
NM_001304718.2:c.-1469G>A NP_001291647.1:n.-1469G>A
NM_000314.8:c.-765G>A MANE Select NP_000305.3:n.-765G>A
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