Canonical Allele Identifier: CA377485543
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960928T>C , CM000672.2:g.87960928T>C GRCh38
NC_000010.10:g.89720685T>C , CM000672.1:g.89720685T>C GRCh37
NC_000010.9:g.89710665T>C NCBI36
NG_007466.2:g.102490T>C , LRG_311:g.102490T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.929T>C ENSP00000514759.2:p.Phe310Ser
ENST00000710265.1:c.836T>C ENSP00000518161.1:p.Phe279Ser
ENST00000472832.3:c.836T>C ENSP00000483066.2:p.Phe279Ser
ENST00000688158.2:n.1571T>C
ENST00000688922.2:c.*666T>C ENSP00000508742.2:n.*666T>C
ENST00000700021.1:c.791T>C ENSP00000514757.1:p.Phe264Ser
ENST00000700022.1:c.*175T>C ENSP00000514758.1:n.*175T>C
ENST00000700023.1:n.1994T>C
ENST00000700024.1:n.2228T>C
ENST00000700025.1:n.1605T>C
ENST00000700026.1:n.473T>C
ENST00000700029.1:c.763T>C
ENST00000706954.1:c.836T>C ENSP00000516674.1:p.Phe279Ser
ENST00000706955.1:c.*871T>C ENSP00000516675.1:n.*871T>C
ENST00000686459.1:c.*422T>C ENSP00000508909.1:n.*422T>C
ENST00000688158.1:c.*947T>C ENSP00000509254.1:n.*947T>C
ENST00000688308.1:c.836T>C ENSP00000508752.1:p.Phe279Ser
ENST00000688922.1:c.757T>C
ENST00000693560.1:c.1355T>C ENSP00000509861.1:p.Phe452Ser
ENST00000371953.8:c.836T>C MANE Select ENSP00000361021.3:p.Phe279Ser
ENST00000371953.7:c.836T>C ENSP00000361021.3:p.Phe279Ser
ENST00000472832.2:c.263T>C ENSP00000483066.1:p.Phe88Ser
NM_000314.5:c.836T>C NP_000305.3:p.Phe279Ser
NM_000314.6:c.836T>C NP_000305.3:p.Phe279Ser
NM_001304717.2:c.1355T>C NP_001291646.2:p.Phe452Ser
NM_001304718.1:c.245T>C NP_001291647.1:p.Phe82Ser
XM_006717926.2:c.791T>C XP_006717989.1:p.Phe264Ser
XM_011539981.1:c.836T>C XP_011538283.1:p.Phe279Ser
XM_011539982.1:c.740T>C XP_011538284.1:p.Phe247Ser
XR_945791.1:n.1406T>C
NM_000314.7:c.836T>C NP_000305.3:p.Phe279Ser
NM_001304717.5:c.1355T>C NP_001291646.4:p.Phe452Ser
NM_001304718.2:c.245T>C NP_001291647.1:p.Phe82Ser
NM_000314.8:c.836T>C MANE Select NP_000305.3:p.Phe279Ser