Canonical Allele Identifier: CA377482336
Gene: PTEN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933160T>A , CM000672.2:g.87933160T>A GRCh38
NC_000010.10:g.89692917T>A , CM000672.1:g.89692917T>A GRCh37
NC_000010.9:g.89682897T>A NCBI36
NG_007466.2:g.74722T>A , LRG_311:g.74722T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.401T>A ENSP00000514759.2:p.Met134Lys
ENST00000710265.1:c.401T>A ENSP00000518161.1:p.Met134Lys
ENST00000472832.3:c.401T>A ENSP00000483066.2:p.Met134Lys
ENST00000688158.2:n.1136T>A
ENST00000688922.2:c.*231T>A ENSP00000508742.2:n.*231T>A
ENST00000700021.1:c.356T>A ENSP00000514757.1:p.Met119Lys
ENST00000700022.1:c.401T>A ENSP00000514758.1:p.Met134Lys
ENST00000700029.1:c.235T>A
ENST00000706954.1:c.401T>A ENSP00000516674.1:p.Met134Lys
ENST00000706955.1:c.*436T>A ENSP00000516675.1:n.*436T>A
ENST00000686459.1:c.401T>A ENSP00000508909.1:p.Met134Lys
ENST00000688158.1:c.*512T>A ENSP00000509254.1:n.*512T>A
ENST00000688308.1:c.401T>A ENSP00000508752.1:p.Met134Lys
ENST00000688922.1:c.322T>A
ENST00000693560.1:c.920T>A ENSP00000509861.1:p.Met307Lys
ENST00000371953.8:c.401T>A MANE Select ENSP00000361021.3:p.Met134Lys
ENST00000371953.7:c.401T>A ENSP00000361021.3:p.Met134Lys
ENST00000498703.1:n.227T>A
ENST00000610634.1:c.299T>A ENSP00000477517.1:p.Met100Lys
NM_000314.5:c.401T>A NP_000305.3:p.Met134Lys
NM_000314.6:c.401T>A NP_000305.3:p.Met134Lys
NM_001304717.2:c.920T>A NP_001291646.2:p.Met307Lys
NM_001304718.1:c.-350T>A NP_001291647.1:n.-350T>A
XM_006717926.2:c.356T>A XP_006717989.1:p.Met119Lys
XM_011539981.1:c.401T>A XP_011538283.1:p.Met134Lys
XM_011539982.1:c.305T>A XP_011538284.1:p.Met102Lys
XR_945789.1:n.1113T>A
XR_945790.1:n.1113T>A
XR_945791.1:n.1113T>A
NM_000314.7:c.401T>A NP_000305.3:p.Met134Lys
NM_001304717.5:c.920T>A NP_001291646.4:p.Met307Lys
NM_001304718.2:c.-350T>A NP_001291647.1:n.-350T>A
NM_000314.8:c.401T>A MANE Select NP_000305.3:p.Met134Lys