Canonical Allele Identifier: CA377484997
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 536548
dbSNP Id: rs1554825226
COSMIC: COSM5286

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957970G>T , CM000672.2:g.87957970G>T GRCh38
NC_000010.10:g.89717727G>T , CM000672.1:g.89717727G>T GRCh37
NC_000010.9:g.89707707G>T NCBI36
NG_007466.2:g.99532G>T , LRG_311:g.99532G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.752G>T ENSP00000514759.2:p.Gly251Val
ENST00000710265.1:c.752G>T ENSP00000518161.1:p.Gly251Val
ENST00000472832.3:c.752G>T ENSP00000483066.2:p.Gly251Val
ENST00000688158.2:n.1487G>T
ENST00000688922.2:c.*582G>T ENSP00000508742.2:n.*582G>T
ENST00000700021.1:c.707G>T ENSP00000514757.1:p.Gly236Val
ENST00000700022.1:c.*91G>T ENSP00000514758.1:n.*91G>T
ENST00000700023.1:n.1910G>T
ENST00000700024.1:n.2144G>T
ENST00000700025.1:n.1521G>T
ENST00000700026.1:n.389G>T
ENST00000700029.1:c.586G>T
ENST00000706954.1:c.752G>T ENSP00000516674.1:p.Gly251Val
ENST00000706955.1:c.*787G>T ENSP00000516675.1:n.*787G>T
ENST00000686459.1:c.*338G>T ENSP00000508909.1:n.*338G>T
ENST00000688158.1:c.*863G>T ENSP00000509254.1:n.*863G>T
ENST00000688308.1:c.752G>T ENSP00000508752.1:p.Gly251Val
ENST00000688922.1:c.673G>T
ENST00000693560.1:c.1271G>T ENSP00000509861.1:p.Gly424Val
ENST00000371953.8:c.752G>T MANE Select ENSP00000361021.3:p.Gly251Val
ENST00000371953.7:c.752G>T ENSP00000361021.3:p.Gly251Val
ENST00000472832.2:c.179G>T ENSP00000483066.1:p.Gly60Val
NM_000314.5:c.752G>T NP_000305.3:p.Gly251Val
NM_000314.6:c.752G>T NP_000305.3:p.Gly251Val
NM_001304717.2:c.1271G>T NP_001291646.2:p.Gly424Val
NM_001304718.1:c.161G>T NP_001291647.1:p.Gly54Val
XM_006717926.2:c.707G>T XP_006717989.1:p.Gly236Val
XM_011539981.1:c.752G>T XP_011538283.1:p.Gly251Val
XM_011539982.1:c.656G>T XP_011538284.1:p.Gly219Val
XR_945791.1:n.1322G>T
NM_000314.7:c.752G>T NP_000305.3:p.Gly251Val
NM_001304717.5:c.1271G>T NP_001291646.4:p.Gly424Val
NM_001304718.2:c.161G>T NP_001291647.1:p.Gly54Val
NM_000314.8:c.752G>T MANE Select NP_000305.3:p.Gly251Val