Canonical Allele Identifier: CA377484690
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468703
dbSNP Id: rs765433422
COSMIC: COSM308351

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952250G>T , CM000672.2:g.87952250G>T GRCh38
NC_000010.10:g.89712007G>T , CM000672.1:g.89712007G>T GRCh37
NC_000010.9:g.89701987G>T NCBI36
NG_007466.2:g.93812G>T , LRG_311:g.93812G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.625G>T ENSP00000514759.2:p.Gly209Ter
ENST00000710265.1:c.625G>T ENSP00000518161.1:p.Gly209Ter
ENST00000472832.3:c.625G>T ENSP00000483066.2:p.Gly209Ter
ENST00000688158.2:n.1360G>T
ENST00000688922.2:c.*455G>T ENSP00000508742.2:n.*455G>T
ENST00000700021.1:c.580G>T ENSP00000514757.1:p.Gly194Ter
ENST00000700022.1:c.493-5603G>T ENSP00000514758.1:n.493-5603G>T
ENST00000700023.1:n.1783G>T
ENST00000700024.1:n.2017G>T
ENST00000700025.1:n.1394G>T
ENST00000700029.1:c.459G>T
ENST00000706954.1:c.625G>T ENSP00000516674.1:p.Gly209Ter
ENST00000706955.1:c.*660G>T ENSP00000516675.1:n.*660G>T
ENST00000686459.1:c.*211G>T ENSP00000508909.1:n.*211G>T
ENST00000688158.1:c.*736G>T ENSP00000509254.1:n.*736G>T
ENST00000688308.1:c.625G>T ENSP00000508752.1:p.Gly209Ter
ENST00000688922.1:c.546G>T
ENST00000693560.1:c.1144G>T ENSP00000509861.1:p.Gly382Ter
ENST00000371953.8:c.625G>T MANE Select ENSP00000361021.3:p.Gly209Ter
ENST00000371953.7:c.625G>T ENSP00000361021.3:p.Gly209Ter
ENST00000472832.2:c.52G>T ENSP00000483066.1:p.Gly18Ter
NM_000314.5:c.625G>T NP_000305.3:p.Gly209Ter
NM_000314.6:c.625G>T NP_000305.3:p.Gly209Ter
NM_001304717.2:c.1144G>T NP_001291646.2:p.Gly382Ter
NM_001304718.1:c.34G>T NP_001291647.1:p.Gly12Ter
XM_006717926.2:c.580G>T XP_006717989.1:p.Gly194Ter
XM_011539981.1:c.625G>T XP_011538283.1:p.Gly209Ter
XM_011539982.1:c.529G>T XP_011538284.1:p.Gly177Ter
XR_945791.1:n.1205-5603G>T
NM_000314.7:c.625G>T NP_000305.3:p.Gly209Ter
NM_001304717.5:c.1144G>T NP_001291646.4:p.Gly382Ter
NM_001304718.2:c.34G>T NP_001291647.1:p.Gly12Ter
NM_000314.8:c.625G>T MANE Select NP_000305.3:p.Gly209Ter