Canonical Allele Identifier: CA000118
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 187673
ClinVar RCV Id: RCV000167422 RCV000212888 RCV000538790 RCV000585009 RCV003462242
dbSNP Id: rs786203911
gnomAD v2: 10-89725188-C-T
gnomAD v4: 10-87965431-C-T
MyVariant Identifiers: chr10:g.89725188C>T (hg19) chr10:g.87965431C>T (hg38)
ERepo: CA000118/MONDO:0017623/003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965431C>T , CM000672.2:g.87965431C>T GRCh38
NC_000010.10:g.89725188C>T , CM000672.1:g.89725188C>T GRCh37
NC_000010.9:g.89715168C>T NCBI36
NG_007466.2:g.106993C>T , LRG_311:g.106993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1264C>T ENSP00000514759.2:p.Pro422Ser
ENST00000710265.1:c.*200C>T ENSP00000518161.1:n.*200C>T
ENST00000688158.2:n.1906C>T
ENST00000688922.2:c.*1001C>T ENSP00000508742.2:n.*1001C>T
ENST00000700021.1:c.1126C>T ENSP00000514757.1:p.Pro376Ser
ENST00000700022.1:c.*510C>T ENSP00000514758.1:n.*510C>T
ENST00000700023.1:n.2329C>T
ENST00000700024.1:n.2563C>T
ENST00000706954.1:c.1171C>T ENSP00000516674.1:p.Pro391Ser
ENST00000706955.1:c.*1206C>T ENSP00000516675.1:n.*1206C>T
ENST00000686459.1:c.*757C>T ENSP00000508909.1:n.*757C>T
ENST00000688158.1:c.*1282C>T ENSP00000509254.1:n.*1282C>T
ENST00000688308.1:c.1171C>T ENSP00000508752.1:p.Pro391Ser
ENST00000688922.1:c.1092C>T
ENST00000693560.1:c.1690C>T ENSP00000509861.1:p.Pro564Ser
ENST00000371953.8:c.1171C>T MANE Select ENSP00000361021.3:p.Pro391Ser
ENST00000371953.7:c.1171C>T ENSP00000361021.3:p.Pro391Ser
NM_000314.5:c.1171C>T NP_000305.3:p.Pro391Ser
NM_000314.6:c.1171C>T NP_000305.3:p.Pro391Ser
NM_001304717.2:c.1690C>T NP_001291646.2:p.Pro564Ser
NM_001304718.1:c.580C>T NP_001291647.1:p.Pro194Ser
XM_006717926.2:c.1126C>T XP_006717989.1:p.Pro376Ser
XM_011539982.1:c.1075C>T XP_011538284.1:p.Pro359Ser
XR_945791.1:n.1741C>T
NM_000314.7:c.1171C>T NP_000305.3:p.Pro391Ser
NM_001304717.5:c.1690C>T NP_001291646.4:p.Pro564Ser
NM_001304718.2:c.580C>T NP_001291647.1:p.Pro194Ser
NM_000314.8:c.1171C>T MANE Select NP_000305.3:p.Pro391Ser
Search 100 bp 5'
Search 100 bp 3'