Canonical Allele Identifier: CA377487344
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965402A>C , CM000672.2:g.87965402A>C GRCh38
NC_000010.10:g.89725159A>C , CM000672.1:g.89725159A>C GRCh37
NC_000010.9:g.89715139A>C NCBI36
NG_007466.2:g.106964A>C , LRG_311:g.106964A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1235A>C ENSP00000514759.2:p.Asp412Ala
ENST00000710265.1:c.*171A>C ENSP00000518161.1:n.*171A>C
ENST00000688158.2:n.1877A>C
ENST00000688922.2:c.*972A>C ENSP00000508742.2:n.*972A>C
ENST00000700021.1:c.1097A>C ENSP00000514757.1:p.Asp366Ala
ENST00000700022.1:c.*481A>C ENSP00000514758.1:n.*481A>C
ENST00000700023.1:n.2300A>C
ENST00000700024.1:n.2534A>C
ENST00000706954.1:c.1142A>C ENSP00000516674.1:p.Asp381Ala
ENST00000706955.1:c.*1177A>C ENSP00000516675.1:n.*1177A>C
ENST00000686459.1:c.*728A>C ENSP00000508909.1:n.*728A>C
ENST00000688158.1:c.*1253A>C ENSP00000509254.1:n.*1253A>C
ENST00000688308.1:c.1142A>C ENSP00000508752.1:p.Asp381Ala
ENST00000688922.1:c.1063A>C
ENST00000693560.1:c.1661A>C ENSP00000509861.1:p.Asp554Ala
ENST00000371953.8:c.1142A>C MANE Select ENSP00000361021.3:p.Asp381Ala
ENST00000371953.7:c.1142A>C ENSP00000361021.3:p.Asp381Ala
NM_000314.5:c.1142A>C NP_000305.3:p.Asp381Ala
NM_000314.6:c.1142A>C NP_000305.3:p.Asp381Ala
NM_001304717.2:c.1661A>C NP_001291646.2:p.Asp554Ala
NM_001304718.1:c.551A>C NP_001291647.1:p.Asp184Ala
XM_006717926.2:c.1097A>C XP_006717989.1:p.Asp366Ala
XM_011539982.1:c.1046A>C XP_011538284.1:p.Asp349Ala
XR_945791.1:n.1712A>C
NM_000314.7:c.1142A>C NP_000305.3:p.Asp381Ala
NM_001304717.5:c.1661A>C NP_001291646.4:p.Asp554Ala
NM_001304718.2:c.551A>C NP_001291647.1:p.Asp184Ala
NM_000314.8:c.1142A>C MANE Select NP_000305.3:p.Asp381Ala