Canonical Allele Identifier: CA000201
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 183073
dbSNP Id: rs730882131
COSMIC: COSM5160

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957999C>T , CM000672.2:g.87957999C>T GRCh38
NC_000010.10:g.89717756C>T , CM000672.1:g.89717756C>T GRCh37
NC_000010.9:g.89707736C>T NCBI36
NG_007466.2:g.99561C>T , LRG_311:g.99561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.781C>T ENSP00000514759.2:p.Gln261Ter
ENST00000710265.1:c.781C>T ENSP00000518161.1:p.Gln261Ter
ENST00000472832.3:c.781C>T ENSP00000483066.2:p.Gln261Ter
ENST00000688158.2:n.1516C>T
ENST00000688922.2:c.*611C>T ENSP00000508742.2:n.*611C>T
ENST00000700021.1:c.736C>T ENSP00000514757.1:p.Gln246Ter
ENST00000700022.1:c.*120C>T ENSP00000514758.1:n.*120C>T
ENST00000700023.1:n.1939C>T
ENST00000700024.1:n.2173C>T
ENST00000700025.1:n.1550C>T
ENST00000700026.1:n.418C>T
ENST00000700029.1:c.615C>T
ENST00000706954.1:c.781C>T ENSP00000516674.1:p.Gln261Ter
ENST00000706955.1:c.*816C>T ENSP00000516675.1:n.*816C>T
ENST00000686459.1:c.*367C>T ENSP00000508909.1:n.*367C>T
ENST00000688158.1:c.*892C>T ENSP00000509254.1:n.*892C>T
ENST00000688308.1:c.781C>T ENSP00000508752.1:p.Gln261Ter
ENST00000688922.1:c.702C>T
ENST00000693560.1:c.1300C>T ENSP00000509861.1:p.Gln434Ter
ENST00000371953.8:c.781C>T MANE Select ENSP00000361021.3:p.Gln261Ter
ENST00000371953.7:c.781C>T ENSP00000361021.3:p.Gln261Ter
ENST00000472832.2:c.208C>T ENSP00000483066.1:p.Gln70Ter
NM_000314.5:c.781C>T NP_000305.3:p.Gln261Ter
NM_000314.6:c.781C>T NP_000305.3:p.Gln261Ter
NM_001304717.2:c.1300C>T NP_001291646.2:p.Gln434Ter
NM_001304718.1:c.190C>T NP_001291647.1:p.Gln64Ter
XM_006717926.2:c.736C>T XP_006717989.1:p.Gln246Ter
XM_011539981.1:c.781C>T XP_011538283.1:p.Gln261Ter
XM_011539982.1:c.685C>T XP_011538284.1:p.Gln229Ter
XR_945791.1:n.1351C>T
NM_000314.7:c.781C>T NP_000305.3:p.Gln261Ter
NM_001304717.5:c.1300C>T NP_001291646.4:p.Gln434Ter
NM_001304718.2:c.190C>T NP_001291647.1:p.Gln64Ter
NM_000314.8:c.781C>T MANE Select NP_000305.3:p.Gln261Ter