Canonical Allele Identifier: CA000405

Gene: PTEN

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933097G>T , CM000672.2:g.87933097G>T	GRCh38
NC_000010.10:g.89692854G>T , CM000672.1:g.89692854G>T	GRCh37
NC_000010.9:g.89682834G>T	NCBI36
NG_007466.2:g.74659G>T , LRG_311:g.74659G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.338G>T	ENSP00000514759.2:p.Ser113Ile
ENST00000710265.1:c.338G>T	ENSP00000518161.1:p.Ser113Ile
ENST00000472832.3:c.338G>T	ENSP00000483066.2:p.Ser113Ile
ENST00000688158.2:n.1073G>T
ENST00000688922.2:c.*168G>T	ENSP00000508742.2:n.*168G>T
ENST00000700021.1:c.293G>T	ENSP00000514757.1:p.Ser98Ile
ENST00000700022.1:c.338G>T	ENSP00000514758.1:p.Ser113Ile
ENST00000700029.1:c.172G>T
ENST00000706954.1:c.338G>T	ENSP00000516674.1:p.Ser113Ile
ENST00000706955.1:c.*373G>T	ENSP00000516675.1:n.*373G>T
ENST00000686459.1:c.338G>T	ENSP00000508909.1:p.Ser113Ile
ENST00000688158.1:c.*449G>T	ENSP00000509254.1:n.*449G>T
ENST00000688308.1:c.338G>T	ENSP00000508752.1:p.Ser113Ile
ENST00000688922.1:c.259G>T
ENST00000693560.1:c.857G>T	ENSP00000509861.1:p.Ser286Ile
ENST00000371953.8:c.338G>T MANE Select	ENSP00000361021.3:p.Ser113Ile
ENST00000371953.7:c.338G>T	ENSP00000361021.3:p.Ser113Ile
ENST00000498703.1:n.164G>T
ENST00000610634.1:c.236G>T	ENSP00000477517.1:p.Ser79Ile
NM_000314.5:c.338G>T	NP_000305.3:p.Ser113Ile
NM_000314.6:c.338G>T	NP_000305.3:p.Ser113Ile
NM_001304717.2:c.857G>T	NP_001291646.2:p.Ser286Ile
NM_001304718.1:c.-413G>T	NP_001291647.1:n.-413G>T
XM_006717926.2:c.293G>T	XP_006717989.1:p.Ser98Ile
XM_011539981.1:c.338G>T	XP_011538283.1:p.Ser113Ile
XM_011539982.1:c.242G>T	XP_011538284.1:p.Ser81Ile
XR_945789.1:n.1050G>T
XR_945790.1:n.1050G>T
XR_945791.1:n.1050G>T
NM_000314.7:c.338G>T	NP_000305.3:p.Ser113Ile
NM_001304717.5:c.857G>T	NP_001291646.4:p.Ser286Ile
NM_001304718.2:c.-413G>T	NP_001291647.1:n.-413G>T
NM_000314.8:c.338G>T MANE Select	NP_000305.3:p.Ser113Ile