Canonical Allele Identifier: CA000295
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 142088
ClinVar RCV Id: RCV000130915 RCV000556721 RCV000486316
dbSNP Id: rs587782224
gnomAD v4: 10-87965365-G-A
MyVariant Identifiers: chr10:g.89725122G>A (hg19) chr10:g.87965365G>A (hg38)
ERepo: CA000295/MONDO:0017623/003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965365G>A , CM000672.2:g.87965365G>A GRCh38
NC_000010.10:g.89725122G>A , CM000672.1:g.89725122G>A GRCh37
NC_000010.9:g.89715102G>A NCBI36
NG_007466.2:g.106927G>A , LRG_311:g.106927G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1198G>A ENSP00000514759.2:p.Val400Ile
ENST00000710265.1:c.*134G>A ENSP00000518161.1:n.*134G>A
ENST00000688158.2:n.1840G>A
ENST00000688922.2:c.*935G>A ENSP00000508742.2:n.*935G>A
ENST00000700021.1:c.1060G>A ENSP00000514757.1:p.Val354Ile
ENST00000700022.1:c.*444G>A ENSP00000514758.1:n.*444G>A
ENST00000700023.1:n.2263G>A
ENST00000700024.1:n.2497G>A
ENST00000706954.1:c.1105G>A ENSP00000516674.1:p.Val369Ile
ENST00000706955.1:c.*1140G>A ENSP00000516675.1:n.*1140G>A
ENST00000686459.1:c.*691G>A ENSP00000508909.1:n.*691G>A
ENST00000688158.1:c.*1216G>A ENSP00000509254.1:n.*1216G>A
ENST00000688308.1:c.1105G>A ENSP00000508752.1:p.Val369Ile
ENST00000688922.1:c.1026G>A
ENST00000693560.1:c.1624G>A ENSP00000509861.1:p.Val542Ile
ENST00000371953.8:c.1105G>A MANE Select ENSP00000361021.3:p.Val369Ile
ENST00000371953.7:c.1105G>A ENSP00000361021.3:p.Val369Ile
NM_000314.5:c.1105G>A NP_000305.3:p.Val369Ile
NM_000314.6:c.1105G>A NP_000305.3:p.Val369Ile
NM_001304717.2:c.1624G>A NP_001291646.2:p.Val542Ile
NM_001304718.1:c.514G>A NP_001291647.1:p.Val172Ile
XM_006717926.2:c.1060G>A XP_006717989.1:p.Val354Ile
XM_011539982.1:c.1009G>A XP_011538284.1:p.Val337Ile
XR_945791.1:n.1675G>A
NM_000314.7:c.1105G>A NP_000305.3:p.Val369Ile
NM_001304717.5:c.1624G>A NP_001291646.4:p.Val542Ile
NM_001304718.2:c.514G>A NP_001291647.1:p.Val172Ile
NM_000314.8:c.1105G>A MANE Select NP_000305.3:p.Val369Ile
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