Canonical Allele Identifier: CA377482344

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428235
• ClinVar RCV Id: RCV000490950 ; RCV002475968
• dbSNP Id: rs370795352
• COSMIC: COSM5243
• MyVariant Identifiers: chr10:g.89692920T>A (hg19) ; chr10:g.87933163T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933163T>A , CM000672.2:g.87933163T>A	GRCh38
NC_000010.10:g.89692920T>A , CM000672.1:g.89692920T>A	GRCh37
NC_000010.9:g.89682900T>A	NCBI36
NG_007466.2:g.74725T>A , LRG_311:g.74725T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.404T>A	ENSP00000514759.2:p.Ile135Lys
ENST00000710265.1:c.404T>A	ENSP00000518161.1:p.Ile135Lys
ENST00000472832.3:c.404T>A	ENSP00000483066.2:p.Ile135Lys
ENST00000688158.2:n.1139T>A
ENST00000688922.2:c.*234T>A	ENSP00000508742.2:n.*234T>A
ENST00000700021.1:c.359T>A	ENSP00000514757.1:p.Ile120Lys
ENST00000700022.1:c.404T>A	ENSP00000514758.1:p.Ile135Lys
ENST00000700029.1:c.238T>A
ENST00000706954.1:c.404T>A	ENSP00000516674.1:p.Ile135Lys
ENST00000706955.1:c.*439T>A	ENSP00000516675.1:n.*439T>A
ENST00000686459.1:c.404T>A	ENSP00000508909.1:p.Ile135Lys
ENST00000688158.1:c.*515T>A	ENSP00000509254.1:n.*515T>A
ENST00000688308.1:c.404T>A	ENSP00000508752.1:p.Ile135Lys
ENST00000688922.1:c.325T>A
ENST00000693560.1:c.923T>A	ENSP00000509861.1:p.Ile308Lys
ENST00000371953.8:c.404T>A MANE Select	ENSP00000361021.3:p.Ile135Lys
ENST00000371953.7:c.404T>A	ENSP00000361021.3:p.Ile135Lys
ENST00000498703.1:n.230T>A
ENST00000610634.1:c.302T>A	ENSP00000477517.1:p.Ile101Lys
NM_000314.5:c.404T>A	NP_000305.3:p.Ile135Lys
NM_000314.6:c.404T>A	NP_000305.3:p.Ile135Lys
NM_001304717.2:c.923T>A	NP_001291646.2:p.Ile308Lys
NM_001304718.1:c.-347T>A	NP_001291647.1:n.-347T>A
XM_006717926.2:c.359T>A	XP_006717989.1:p.Ile120Lys
XM_011539981.1:c.404T>A	XP_011538283.1:p.Ile135Lys
XM_011539982.1:c.308T>A	XP_011538284.1:p.Ile103Lys
XR_945789.1:n.1116T>A
XR_945790.1:n.1116T>A
XR_945791.1:n.1116T>A
NM_000314.7:c.404T>A	NP_000305.3:p.Ile135Lys
NM_001304717.5:c.923T>A	NP_001291646.4:p.Ile308Lys
NM_001304718.2:c.-347T>A	NP_001291647.1:n.-347T>A
NM_000314.8:c.404T>A MANE Select	NP_000305.3:p.Ile135Lys