Canonical Allele Identifier: CA377487422
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965436T>A , CM000672.2:g.87965436T>A GRCh38
NC_000010.10:g.89725193T>A , CM000672.1:g.89725193T>A GRCh37
NC_000010.9:g.89715173T>A NCBI36
NG_007466.2:g.106998T>A , LRG_311:g.106998T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1269T>A ENSP00000514759.2:p.Phe423Leu
ENST00000710265.1:c.*205T>A ENSP00000518161.1:n.*205T>A
ENST00000688158.2:n.1911T>A
ENST00000688922.2:c.*1006T>A ENSP00000508742.2:n.*1006T>A
ENST00000700021.1:c.1131T>A ENSP00000514757.1:p.Phe377Leu
ENST00000700022.1:c.*515T>A ENSP00000514758.1:n.*515T>A
ENST00000700023.1:n.2334T>A
ENST00000700024.1:n.2568T>A
ENST00000706954.1:c.1176T>A ENSP00000516674.1:p.Phe392Leu
ENST00000706955.1:c.*1211T>A ENSP00000516675.1:n.*1211T>A
ENST00000686459.1:c.*762T>A ENSP00000508909.1:n.*762T>A
ENST00000688158.1:c.*1287T>A ENSP00000509254.1:n.*1287T>A
ENST00000688308.1:c.1176T>A ENSP00000508752.1:p.Phe392Leu
ENST00000688922.1:c.1097T>A
ENST00000693560.1:c.1695T>A ENSP00000509861.1:p.Phe565Leu
ENST00000371953.8:c.1176T>A MANE Select ENSP00000361021.3:p.Phe392Leu
ENST00000371953.7:c.1176T>A ENSP00000361021.3:p.Phe392Leu
NM_000314.5:c.1176T>A NP_000305.3:p.Phe392Leu
NM_000314.6:c.1176T>A NP_000305.3:p.Phe392Leu
NM_001304717.2:c.1695T>A NP_001291646.2:p.Phe565Leu
NM_001304718.1:c.585T>A NP_001291647.1:p.Phe195Leu
XM_006717926.2:c.1131T>A XP_006717989.1:p.Phe377Leu
XM_011539982.1:c.1080T>A XP_011538284.1:p.Phe360Leu
XR_945791.1:n.1746T>A
NM_000314.7:c.1176T>A NP_000305.3:p.Phe392Leu
NM_001304717.5:c.1695T>A NP_001291646.4:p.Phe565Leu
NM_001304718.2:c.585T>A NP_001291647.1:p.Phe195Leu
NM_000314.8:c.1176T>A MANE Select NP_000305.3:p.Phe392Leu