Canonical Allele Identifier: CA000127
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 184020
dbSNP Id: rs189583426

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894104A>G , CM000672.2:g.87894104A>G GRCh38
NC_000010.10:g.89653861A>G , CM000672.1:g.89653861A>G GRCh37
NC_000010.9:g.89643841A>G NCBI36
NG_007466.2:g.35666A>G , LRG_311:g.35666A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.159A>G ENSP00000514759.2:p.Val53=
ENST00000710265.1:c.159A>G ENSP00000518161.1:p.Val53=
ENST00000472832.3:c.159A>G ENSP00000483066.2:p.Val53=
ENST00000688158.2:n.899+13666A>G
ENST00000688922.2:c.159A>G ENSP00000508742.2:p.Val53=
ENST00000700021.1:c.159A>G ENSP00000514757.1:p.Val53=
ENST00000700022.1:c.159A>G ENSP00000514758.1:p.Val53=
ENST00000706954.1:c.159A>G ENSP00000516674.1:p.Val53=
ENST00000706955.1:c.*194A>G ENSP00000516675.1:n.*194A>G
ENST00000686459.1:c.159A>G ENSP00000508909.1:p.Val53=
ENST00000688158.1:c.*275+13666A>G ENSP00000509254.1:n.*275+13666A>G
ENST00000688308.1:c.159A>G ENSP00000508752.1:p.Val53=
ENST00000688922.1:c.28A>G
ENST00000693560.1:c.678A>G ENSP00000509861.1:p.Val226=
ENST00000371953.8:c.159A>G MANE Select ENSP00000361021.3:p.Val53=
ENST00000371953.7:c.159A>G ENSP00000361021.3:p.Val53=
ENST00000462694.1:n.161A>G
ENST00000610634.1:c.57A>G ENSP00000477517.1:p.Val19=
NM_000314.5:c.159A>G NP_000305.3:p.Val53=
NM_000314.6:c.159A>G NP_000305.3:p.Val53=
NM_001304717.2:c.678A>G NP_001291646.2:p.Val226=
NM_001304718.1:c.-547A>G NP_001291647.1:n.-547A>G
XM_006717926.2:c.159A>G XP_006717989.1:p.Val53=
XM_011539981.1:c.159A>G XP_011538283.1:p.Val53=
XM_011539982.1:c.68+13666A>G XP_011538284.1:n.68+13666A>G
XR_945789.1:n.871A>G
XR_945790.1:n.871A>G
XR_945791.1:n.871A>G
NM_000314.7:c.159A>G NP_000305.3:p.Val53=
NM_001304717.5:c.678A>G NP_001291646.4:p.Val226=
NM_001304718.2:c.-547A>G NP_001291647.1:n.-547A>G
NM_000314.8:c.159A>G MANE Select NP_000305.3:p.Val53=