Canonical Allele Identifier: CA000584
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189420
dbSNP Id: rs786204873

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958020G>A , CM000672.2:g.87958020G>A GRCh38
NC_000010.10:g.89717777G>A , CM000672.1:g.89717777G>A GRCh37
NC_000010.9:g.89707757G>A NCBI36
NG_007466.2:g.99582G>A , LRG_311:g.99582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.801+1G>A ENSP00000514759.2:n.801+1G>A
ENST00000710265.1:c.801+1G>A ENSP00000518161.1:n.801+1G>A
ENST00000472832.3:c.801+1G>A ENSP00000483066.2:n.801+1G>A
ENST00000688158.2:n.1536+1G>A
ENST00000688922.2:c.*631+1G>A ENSP00000508742.2:n.*631+1G>A
ENST00000700021.1:c.756+1G>A ENSP00000514757.1:n.756+1G>A
ENST00000700022.1:c.*140+1G>A ENSP00000514758.1:n.*140+1G>A
ENST00000700023.1:n.1959+1G>A
ENST00000700024.1:n.2193+1G>A
ENST00000700025.1:n.1570+1G>A
ENST00000700026.1:n.438+1G>A
ENST00000700029.1:c.635+1G>A
ENST00000706954.1:c.801+1G>A ENSP00000516674.1:n.801+1G>A
ENST00000706955.1:c.*836+1G>A ENSP00000516675.1:n.*836+1G>A
ENST00000686459.1:c.*387+1G>A ENSP00000508909.1:n.*387+1G>A
ENST00000688158.1:c.*912+1G>A ENSP00000509254.1:n.*912+1G>A
ENST00000688308.1:c.801+1G>A ENSP00000508752.1:n.801+1G>A
ENST00000688922.1:c.722+1G>A
ENST00000693560.1:c.1320+1G>A ENSP00000509861.1:n.1320+1G>A
ENST00000371953.8:c.801+1G>A MANE Select ENSP00000361021.3:n.801+1G>A
ENST00000371953.7:c.801+1G>A ENSP00000361021.3:n.801+1G>A
ENST00000472832.2:c.228+1G>A ENSP00000483066.1:n.228+1G>A
NM_000314.5:c.801+1G>A NP_000305.3:n.801+1G>A
NM_000314.6:c.801+1G>A NP_000305.3:n.801+1G>A
NM_001304717.2:c.1320+1G>A NP_001291646.2:n.1320+1G>A
NM_001304718.1:c.210+1G>A NP_001291647.1:n.210+1G>A
XM_006717926.2:c.756+1G>A XP_006717989.1:n.756+1G>A
XM_011539981.1:c.801+1G>A XP_011538283.1:n.801+1G>A
XM_011539982.1:c.705+1G>A XP_011538284.1:n.705+1G>A
XR_945791.1:n.1371+1G>A
NM_000314.7:c.801+1G>A NP_000305.3:n.801+1G>A
NM_001304717.5:c.1320+1G>A NP_001291646.4:n.1320+1G>A
NM_001304718.2:c.210+1G>A NP_001291647.1:n.210+1G>A
NM_000314.8:c.801+1G>A MANE Select NP_000305.3:n.801+1G>A