Canonical Allele Identifier: CA377487308
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965387A>T , CM000672.2:g.87965387A>T GRCh38
NC_000010.10:g.89725144A>T , CM000672.1:g.89725144A>T GRCh37
NC_000010.9:g.89715124A>T NCBI36
NG_007466.2:g.106949A>T , LRG_311:g.106949A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1220A>T ENSP00000514759.2:p.His407Leu
ENST00000710265.1:c.*156A>T ENSP00000518161.1:n.*156A>T
ENST00000688158.2:n.1862A>T
ENST00000688922.2:c.*957A>T ENSP00000508742.2:n.*957A>T
ENST00000700021.1:c.1082A>T ENSP00000514757.1:p.His361Leu
ENST00000700022.1:c.*466A>T ENSP00000514758.1:n.*466A>T
ENST00000700023.1:n.2285A>T
ENST00000700024.1:n.2519A>T
ENST00000706954.1:c.1127A>T ENSP00000516674.1:p.His376Leu
ENST00000706955.1:c.*1162A>T ENSP00000516675.1:n.*1162A>T
ENST00000686459.1:c.*713A>T ENSP00000508909.1:n.*713A>T
ENST00000688158.1:c.*1238A>T ENSP00000509254.1:n.*1238A>T
ENST00000688308.1:c.1127A>T ENSP00000508752.1:p.His376Leu
ENST00000688922.1:c.1048A>T
ENST00000693560.1:c.1646A>T ENSP00000509861.1:p.His549Leu
ENST00000371953.8:c.1127A>T MANE Select ENSP00000361021.3:p.His376Leu
ENST00000371953.7:c.1127A>T ENSP00000361021.3:p.His376Leu
NM_000314.5:c.1127A>T NP_000305.3:p.His376Leu
NM_000314.6:c.1127A>T NP_000305.3:p.His376Leu
NM_001304717.2:c.1646A>T NP_001291646.2:p.His549Leu
NM_001304718.1:c.536A>T NP_001291647.1:p.His179Leu
XM_006717926.2:c.1082A>T XP_006717989.1:p.His361Leu
XM_011539982.1:c.1031A>T XP_011538284.1:p.His344Leu
XR_945791.1:n.1697A>T
NM_000314.7:c.1127A>T NP_000305.3:p.His376Leu
NM_001304717.5:c.1646A>T NP_001291646.4:p.His549Leu
NM_001304718.2:c.536A>T NP_001291647.1:p.His179Leu
NM_000314.8:c.1127A>T MANE Select NP_000305.3:p.His376Leu