Canonical Allele Identifier: CA377487420
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965435T>C , CM000672.2:g.87965435T>C GRCh38
NC_000010.10:g.89725192T>C , CM000672.1:g.89725192T>C GRCh37
NC_000010.9:g.89715172T>C NCBI36
NG_007466.2:g.106997T>C , LRG_311:g.106997T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1268T>C ENSP00000514759.2:p.Phe423Ser
ENST00000710265.1:c.*204T>C ENSP00000518161.1:n.*204T>C
ENST00000688158.2:n.1910T>C
ENST00000688922.2:c.*1005T>C ENSP00000508742.2:n.*1005T>C
ENST00000700021.1:c.1130T>C ENSP00000514757.1:p.Phe377Ser
ENST00000700022.1:c.*514T>C ENSP00000514758.1:n.*514T>C
ENST00000700023.1:n.2333T>C
ENST00000700024.1:n.2567T>C
ENST00000706954.1:c.1175T>C ENSP00000516674.1:p.Phe392Ser
ENST00000706955.1:c.*1210T>C ENSP00000516675.1:n.*1210T>C
ENST00000686459.1:c.*761T>C ENSP00000508909.1:n.*761T>C
ENST00000688158.1:c.*1286T>C ENSP00000509254.1:n.*1286T>C
ENST00000688308.1:c.1175T>C ENSP00000508752.1:p.Phe392Ser
ENST00000688922.1:c.1096T>C
ENST00000693560.1:c.1694T>C ENSP00000509861.1:p.Phe565Ser
ENST00000371953.8:c.1175T>C MANE Select ENSP00000361021.3:p.Phe392Ser
ENST00000371953.7:c.1175T>C ENSP00000361021.3:p.Phe392Ser
NM_000314.5:c.1175T>C NP_000305.3:p.Phe392Ser
NM_000314.6:c.1175T>C NP_000305.3:p.Phe392Ser
NM_001304717.2:c.1694T>C NP_001291646.2:p.Phe565Ser
NM_001304718.1:c.584T>C NP_001291647.1:p.Phe195Ser
XM_006717926.2:c.1130T>C XP_006717989.1:p.Phe377Ser
XM_011539982.1:c.1079T>C XP_011538284.1:p.Phe360Ser
XR_945791.1:n.1745T>C
NM_000314.7:c.1175T>C NP_000305.3:p.Phe392Ser
NM_001304717.5:c.1694T>C NP_001291646.4:p.Phe565Ser
NM_001304718.2:c.584T>C NP_001291647.1:p.Phe195Ser
NM_000314.8:c.1175T>C MANE Select NP_000305.3:p.Phe392Ser