Canonical Allele Identifier: CA377487464
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965452A>G , CM000672.2:g.87965452A>G GRCh38
NC_000010.10:g.89725209A>G , CM000672.1:g.89725209A>G GRCh37
NC_000010.9:g.89715189A>G NCBI36
NG_007466.2:g.107014A>G , LRG_311:g.107014A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1285A>G ENSP00000514759.2:p.Thr429Ala
ENST00000710265.1:c.*221A>G ENSP00000518161.1:n.*221A>G
ENST00000688158.2:n.1927A>G
ENST00000688922.2:c.*1022A>G ENSP00000508742.2:n.*1022A>G
ENST00000700021.1:c.1147A>G ENSP00000514757.1:p.Thr383Ala
ENST00000700022.1:c.*531A>G ENSP00000514758.1:n.*531A>G
ENST00000700023.1:n.2350A>G
ENST00000700024.1:n.2584A>G
ENST00000706954.1:c.1192A>G ENSP00000516674.1:p.Thr398Ala
ENST00000706955.1:c.*1227A>G ENSP00000516675.1:n.*1227A>G
ENST00000686459.1:c.*778A>G ENSP00000508909.1:n.*778A>G
ENST00000688158.1:c.*1303A>G ENSP00000509254.1:n.*1303A>G
ENST00000688308.1:c.1192A>G ENSP00000508752.1:p.Thr398Ala
ENST00000688922.1:c.1113A>G
ENST00000693560.1:c.1711A>G ENSP00000509861.1:p.Thr571Ala
ENST00000371953.8:c.1192A>G MANE Select ENSP00000361021.3:p.Thr398Ala
ENST00000371953.7:c.1192A>G ENSP00000361021.3:p.Thr398Ala
NM_000314.5:c.1192A>G NP_000305.3:p.Thr398Ala
NM_000314.6:c.1192A>G NP_000305.3:p.Thr398Ala
NM_001304717.2:c.1711A>G NP_001291646.2:p.Thr571Ala
NM_001304718.1:c.601A>G NP_001291647.1:p.Thr201Ala
XM_006717926.2:c.1147A>G XP_006717989.1:p.Thr383Ala
XM_011539982.1:c.1096A>G XP_011538284.1:p.Thr366Ala
XR_945791.1:n.1762A>G
NM_000314.7:c.1192A>G NP_000305.3:p.Thr398Ala
NM_001304717.5:c.1711A>G NP_001291646.4:p.Thr571Ala
NM_001304718.2:c.601A>G NP_001291647.1:p.Thr201Ala
NM_000314.8:c.1192A>G MANE Select NP_000305.3:p.Thr398Ala