Canonical Allele Identifier: CA377486165

Gene: PTEN

Linked Data

• ClinVar Variation Id: 495806
• ClinVar RCV Id: RCV000588249 ; RCV003451331
• dbSNP Id: rs1554825652
• COSMIC: COSM5255
• MyVariant Identifiers: chr10:g.89720870T>G (hg19) ; chr10:g.87961113T>G (hg38)
• PubMed: PMID:10866302 ; PMID:11051241 ; PMID:15355975

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961113T>G , CM000672.2:g.87961113T>G	GRCh38
NC_000010.10:g.89720870T>G , CM000672.1:g.89720870T>G	GRCh37
NC_000010.9:g.89710850T>G	NCBI36
NG_007466.2:g.102675T>G , LRG_311:g.102675T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1114T>G	ENSP00000514759.2:p.Phe372Val
ENST00000710265.1:c.1021T>G	ENSP00000518161.1:p.Phe341Val
ENST00000472832.3:c.1021T>G	ENSP00000483066.2:p.Phe341Val
ENST00000688158.2:n.1756T>G
ENST00000688922.2:c.*851T>G	ENSP00000508742.2:n.*851T>G
ENST00000700021.1:c.976T>G	ENSP00000514757.1:p.Phe326Val
ENST00000700022.1:c.*360T>G	ENSP00000514758.1:n.*360T>G
ENST00000700023.1:n.2179T>G
ENST00000700024.1:n.2413T>G
ENST00000700025.1:n.1790T>G
ENST00000700026.1:n.658T>G
ENST00000706954.1:c.1021T>G	ENSP00000516674.1:p.Phe341Val
ENST00000706955.1:c.*1056T>G	ENSP00000516675.1:n.*1056T>G
ENST00000686459.1:c.*607T>G	ENSP00000508909.1:n.*607T>G
ENST00000688158.1:c.*1132T>G	ENSP00000509254.1:n.*1132T>G
ENST00000688308.1:c.1021T>G	ENSP00000508752.1:p.Phe341Val
ENST00000688922.1:c.942T>G
ENST00000693560.1:c.1540T>G	ENSP00000509861.1:p.Phe514Val
ENST00000371953.8:c.1021T>G MANE Select	ENSP00000361021.3:p.Phe341Val
ENST00000371953.7:c.1021T>G	ENSP00000361021.3:p.Phe341Val
ENST00000472832.2:c.448T>G	ENSP00000483066.1:p.Phe150Val
NM_000314.5:c.1021T>G	NP_000305.3:p.Phe341Val
NM_000314.6:c.1021T>G	NP_000305.3:p.Phe341Val
NM_001304717.2:c.1540T>G	NP_001291646.2:p.Phe514Val
NM_001304718.1:c.430T>G	NP_001291647.1:p.Phe144Val
XM_006717926.2:c.976T>G	XP_006717989.1:p.Phe326Val
XM_011539981.1:c.1021T>G	XP_011538283.1:p.Phe341Val
XM_011539982.1:c.925T>G	XP_011538284.1:p.Phe309Val
XR_945791.1:n.1591T>G
NM_000314.7:c.1021T>G	NP_000305.3:p.Phe341Val
NM_001304717.5:c.1540T>G	NP_001291646.4:p.Phe514Val
NM_001304718.2:c.430T>G	NP_001291647.1:p.Phe144Val
NM_000314.8:c.1021T>G MANE Select	NP_000305.3:p.Phe341Val