Canonical Allele Identifier: CA000532
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189414
dbSNP Id: rs786204867

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952224T>C , CM000672.2:g.87952224T>C GRCh38
NC_000010.10:g.89711981T>C , CM000672.1:g.89711981T>C GRCh37
NC_000010.9:g.89701961T>C NCBI36
NG_007466.2:g.93786T>C , LRG_311:g.93786T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.599T>C ENSP00000514759.2:p.Phe200Ser
ENST00000710265.1:c.599T>C ENSP00000518161.1:p.Phe200Ser
ENST00000472832.3:c.599T>C ENSP00000483066.2:p.Phe200Ser
ENST00000688158.2:n.1334T>C
ENST00000688922.2:c.*429T>C ENSP00000508742.2:n.*429T>C
ENST00000700021.1:c.554T>C ENSP00000514757.1:p.Phe185Ser
ENST00000700022.1:c.493-5629T>C ENSP00000514758.1:n.493-5629T>C
ENST00000700023.1:n.1757T>C
ENST00000700024.1:n.1991T>C
ENST00000700025.1:n.1368T>C
ENST00000700029.1:c.433T>C
ENST00000706954.1:c.599T>C ENSP00000516674.1:p.Phe200Ser
ENST00000706955.1:c.*634T>C ENSP00000516675.1:n.*634T>C
ENST00000686459.1:c.*185T>C ENSP00000508909.1:n.*185T>C
ENST00000688158.1:c.*710T>C ENSP00000509254.1:n.*710T>C
ENST00000688308.1:c.599T>C ENSP00000508752.1:p.Phe200Ser
ENST00000688922.1:c.520T>C
ENST00000693560.1:c.1118T>C ENSP00000509861.1:p.Phe373Ser
ENST00000371953.8:c.599T>C MANE Select ENSP00000361021.3:p.Phe200Ser
ENST00000371953.7:c.599T>C ENSP00000361021.3:p.Phe200Ser
ENST00000472832.2:c.26T>C ENSP00000483066.1:p.Phe9Ser
NM_000314.5:c.599T>C NP_000305.3:p.Phe200Ser
NM_000314.6:c.599T>C NP_000305.3:p.Phe200Ser
NM_001304717.2:c.1118T>C NP_001291646.2:p.Phe373Ser
NM_001304718.1:c.8T>C NP_001291647.1:p.Phe3Ser
XM_006717926.2:c.554T>C XP_006717989.1:p.Phe185Ser
XM_011539981.1:c.599T>C XP_011538283.1:p.Phe200Ser
XM_011539982.1:c.503T>C XP_011538284.1:p.Phe168Ser
XR_945791.1:n.1205-5629T>C
NM_000314.7:c.599T>C NP_000305.3:p.Phe200Ser
NM_001304717.5:c.1118T>C NP_001291646.4:p.Phe373Ser
NM_001304718.2:c.8T>C NP_001291647.1:p.Phe3Ser
NM_000314.8:c.599T>C MANE Select NP_000305.3:p.Phe200Ser