Canonical Allele Identifier: CA470669983
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 536572
dbSNP Id: rs1554825246

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.774C>T ENSP00000514759.2:p.Phe258=
ENST00000710265.1:c.774C>T ENSP00000518161.1:p.Phe258=
ENST00000472832.3:c.774C>T ENSP00000483066.2:p.Phe258=
ENST00000688158.2:n.1509C>T
ENST00000688922.2:c.*604C>T ENSP00000508742.2:n.*604C>T
ENST00000700021.1:c.729C>T ENSP00000514757.1:p.Phe243=
ENST00000700022.1:c.*113C>T ENSP00000514758.1:n.*113C>T
ENST00000700023.1:n.1932C>T
ENST00000700024.1:n.2166C>T
ENST00000700025.1:n.1543C>T
ENST00000700026.1:n.411C>T
ENST00000700029.1:c.608C>T
ENST00000706954.1:c.774C>T ENSP00000516674.1:p.Phe258=
ENST00000706955.1:c.*809C>T ENSP00000516675.1:n.*809C>T
ENST00000686459.1:c.*360C>T ENSP00000508909.1:n.*360C>T
ENST00000688158.1:c.*885C>T ENSP00000509254.1:n.*885C>T
ENST00000688308.1:c.774C>T ENSP00000508752.1:p.Phe258=
ENST00000688922.1:c.695C>T
ENST00000693560.1:c.1293C>T ENSP00000509861.1:p.Phe431=
ENST00000371953.8:c.774C>T MANE Select ENSP00000361021.3:p.Phe258=
ENST00000371953.7:c.774C>T ENSP00000361021.3:p.Phe258=
ENST00000472832.2:c.201C>T ENSP00000483066.1:p.Phe67=
NM_000314.5:c.774C>T NP_000305.3:p.Phe258=
NM_000314.6:c.774C>T NP_000305.3:p.Phe258=
NM_001304717.2:c.1293C>T NP_001291646.2:p.Phe431=
NM_001304718.1:c.183C>T NP_001291647.1:p.Phe61=
XM_006717926.2:c.729C>T XP_006717989.1:p.Phe243=
XM_011539981.1:c.774C>T XP_011538283.1:p.Phe258=
XM_011539982.1:c.678C>T XP_011538284.1:p.Phe226=
XR_945791.1:n.1344C>T
NM_000314.7:c.774C>T NP_000305.3:p.Phe258=
NM_001304717.5:c.1293C>T NP_001291646.4:p.Phe431=
NM_001304718.2:c.183C>T NP_001291647.1:p.Phe61=
NM_000314.8:c.774C>T MANE Select NP_000305.3:p.Phe258=