Canonical Allele Identifier: CA377487335
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965398T>G , CM000672.2:g.87965398T>G GRCh38
NC_000010.10:g.89725155T>G , CM000672.1:g.89725155T>G GRCh37
NC_000010.9:g.89715135T>G NCBI36
NG_007466.2:g.106960T>G , LRG_311:g.106960T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1231T>G ENSP00000514759.2:p.Ser411Ala
ENST00000710265.1:c.*167T>G ENSP00000518161.1:n.*167T>G
ENST00000688158.2:n.1873T>G
ENST00000688922.2:c.*968T>G ENSP00000508742.2:n.*968T>G
ENST00000700021.1:c.1093T>G ENSP00000514757.1:p.Ser365Ala
ENST00000700022.1:c.*477T>G ENSP00000514758.1:n.*477T>G
ENST00000700023.1:n.2296T>G
ENST00000700024.1:n.2530T>G
ENST00000706954.1:c.1138T>G ENSP00000516674.1:p.Ser380Ala
ENST00000706955.1:c.*1173T>G ENSP00000516675.1:n.*1173T>G
ENST00000686459.1:c.*724T>G ENSP00000508909.1:n.*724T>G
ENST00000688158.1:c.*1249T>G ENSP00000509254.1:n.*1249T>G
ENST00000688308.1:c.1138T>G ENSP00000508752.1:p.Ser380Ala
ENST00000688922.1:c.1059T>G
ENST00000693560.1:c.1657T>G ENSP00000509861.1:p.Ser553Ala
ENST00000371953.8:c.1138T>G MANE Select ENSP00000361021.3:p.Ser380Ala
ENST00000371953.7:c.1138T>G ENSP00000361021.3:p.Ser380Ala
NM_000314.5:c.1138T>G NP_000305.3:p.Ser380Ala
NM_000314.6:c.1138T>G NP_000305.3:p.Ser380Ala
NM_001304717.2:c.1657T>G NP_001291646.2:p.Ser553Ala
NM_001304718.1:c.547T>G NP_001291647.1:p.Ser183Ala
XM_006717926.2:c.1093T>G XP_006717989.1:p.Ser365Ala
XM_011539982.1:c.1042T>G XP_011538284.1:p.Ser348Ala
XR_945791.1:n.1708T>G
NM_000314.7:c.1138T>G NP_000305.3:p.Ser380Ala
NM_001304717.5:c.1657T>G NP_001291646.4:p.Ser553Ala
NM_001304718.2:c.547T>G NP_001291647.1:p.Ser183Ala
NM_000314.8:c.1138T>G MANE Select NP_000305.3:p.Ser380Ala