Canonical Allele Identifier: CA377487286
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132289823

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965378A>T , CM000672.2:g.87965378A>T GRCh38
NC_000010.10:g.89725135A>T , CM000672.1:g.89725135A>T GRCh37
NC_000010.9:g.89715115A>T NCBI36
NG_007466.2:g.106940A>T , LRG_311:g.106940A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1211A>T ENSP00000514759.2:p.Glu404Val
ENST00000710265.1:c.*147A>T ENSP00000518161.1:n.*147A>T
ENST00000688158.2:n.1853A>T
ENST00000688922.2:c.*948A>T ENSP00000508742.2:n.*948A>T
ENST00000700021.1:c.1073A>T ENSP00000514757.1:p.Glu358Val
ENST00000700022.1:c.*457A>T ENSP00000514758.1:n.*457A>T
ENST00000700023.1:n.2276A>T
ENST00000700024.1:n.2510A>T
ENST00000706954.1:c.1118A>T ENSP00000516674.1:p.Glu373Val
ENST00000706955.1:c.*1153A>T ENSP00000516675.1:n.*1153A>T
ENST00000686459.1:c.*704A>T ENSP00000508909.1:n.*704A>T
ENST00000688158.1:c.*1229A>T ENSP00000509254.1:n.*1229A>T
ENST00000688308.1:c.1118A>T ENSP00000508752.1:p.Glu373Val
ENST00000688922.1:c.1039A>T
ENST00000693560.1:c.1637A>T ENSP00000509861.1:p.Glu546Val
ENST00000371953.8:c.1118A>T MANE Select ENSP00000361021.3:p.Glu373Val
ENST00000371953.7:c.1118A>T ENSP00000361021.3:p.Glu373Val
NM_000314.5:c.1118A>T NP_000305.3:p.Glu373Val
NM_000314.6:c.1118A>T NP_000305.3:p.Glu373Val
NM_001304717.2:c.1637A>T NP_001291646.2:p.Glu546Val
NM_001304718.1:c.527A>T NP_001291647.1:p.Glu176Val
XM_006717926.2:c.1073A>T XP_006717989.1:p.Glu358Val
XM_011539982.1:c.1022A>T XP_011538284.1:p.Glu341Val
XR_945791.1:n.1688A>T
NM_000314.7:c.1118A>T NP_000305.3:p.Glu373Val
NM_001304717.5:c.1637A>T NP_001291646.4:p.Glu546Val
NM_001304718.2:c.527A>T NP_001291647.1:p.Glu176Val
NM_000314.8:c.1118A>T MANE Select NP_000305.3:p.Glu373Val