Canonical Allele Identifier: CA377485049
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1554825246

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957992C>A , CM000672.2:g.87957992C>A GRCh38
NC_000010.10:g.89717749C>A , CM000672.1:g.89717749C>A GRCh37
NC_000010.9:g.89707729C>A NCBI36
NG_007466.2:g.99554C>A , LRG_311:g.99554C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.774C>A ENSP00000514759.2:p.Phe258Leu
ENST00000710265.1:c.774C>A ENSP00000518161.1:p.Phe258Leu
ENST00000472832.3:c.774C>A ENSP00000483066.2:p.Phe258Leu
ENST00000688158.2:n.1509C>A
ENST00000688922.2:c.*604C>A ENSP00000508742.2:n.*604C>A
ENST00000700021.1:c.729C>A ENSP00000514757.1:p.Phe243Leu
ENST00000700022.1:c.*113C>A ENSP00000514758.1:n.*113C>A
ENST00000700023.1:n.1932C>A
ENST00000700024.1:n.2166C>A
ENST00000700025.1:n.1543C>A
ENST00000700026.1:n.411C>A
ENST00000700029.1:c.608C>A
ENST00000706954.1:c.774C>A ENSP00000516674.1:p.Phe258Leu
ENST00000706955.1:c.*809C>A ENSP00000516675.1:n.*809C>A
ENST00000686459.1:c.*360C>A ENSP00000508909.1:n.*360C>A
ENST00000688158.1:c.*885C>A ENSP00000509254.1:n.*885C>A
ENST00000688308.1:c.774C>A ENSP00000508752.1:p.Phe258Leu
ENST00000688922.1:c.695C>A
ENST00000693560.1:c.1293C>A ENSP00000509861.1:p.Phe431Leu
ENST00000371953.8:c.774C>A MANE Select ENSP00000361021.3:p.Phe258Leu
ENST00000371953.7:c.774C>A ENSP00000361021.3:p.Phe258Leu
ENST00000472832.2:c.201C>A ENSP00000483066.1:p.Phe67Leu
NM_000314.5:c.774C>A NP_000305.3:p.Phe258Leu
NM_000314.6:c.774C>A NP_000305.3:p.Phe258Leu
NM_001304717.2:c.1293C>A NP_001291646.2:p.Phe431Leu
NM_001304718.1:c.183C>A NP_001291647.1:p.Phe61Leu
XM_006717926.2:c.729C>A XP_006717989.1:p.Phe243Leu
XM_011539981.1:c.774C>A XP_011538283.1:p.Phe258Leu
XM_011539982.1:c.678C>A XP_011538284.1:p.Phe226Leu
XR_945791.1:n.1344C>A
NM_000314.7:c.774C>A NP_000305.3:p.Phe258Leu
NM_001304717.5:c.1293C>A NP_001291646.4:p.Phe431Leu
NM_001304718.2:c.183C>A NP_001291647.1:p.Phe61Leu
NM_000314.8:c.774C>A MANE Select NP_000305.3:p.Phe258Leu