Canonical Allele Identifier: CA377484967
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2231857
ClinVar RCV Id: RCV004093894

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957955C>A , CM000672.2:g.87957955C>A GRCh38
NC_000010.10:g.89717712C>A , CM000672.1:g.89717712C>A GRCh37
NC_000010.9:g.89707692C>A NCBI36
NG_007466.2:g.99517C>A , LRG_311:g.99517C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.737C>A ENSP00000514759.2:p.Pro246Gln
ENST00000710265.1:c.737C>A ENSP00000518161.1:p.Pro246Gln
ENST00000472832.3:c.737C>A ENSP00000483066.2:p.Pro246Gln
ENST00000688158.2:n.1472C>A
ENST00000688922.2:c.*567C>A ENSP00000508742.2:n.*567C>A
ENST00000700021.1:c.692C>A ENSP00000514757.1:p.Pro231Gln
ENST00000700022.1:c.*76C>A ENSP00000514758.1:n.*76C>A
ENST00000700023.1:n.1895C>A
ENST00000700024.1:n.2129C>A
ENST00000700025.1:n.1506C>A
ENST00000700026.1:n.374C>A
ENST00000700029.1:c.571C>A
ENST00000706954.1:c.737C>A ENSP00000516674.1:p.Pro246Gln
ENST00000706955.1:c.*772C>A ENSP00000516675.1:n.*772C>A
ENST00000686459.1:c.*323C>A ENSP00000508909.1:n.*323C>A
ENST00000688158.1:c.*848C>A ENSP00000509254.1:n.*848C>A
ENST00000688308.1:c.737C>A ENSP00000508752.1:p.Pro246Gln
ENST00000688922.1:c.658C>A
ENST00000693560.1:c.1256C>A ENSP00000509861.1:p.Pro419Gln
ENST00000371953.8:c.737C>A MANE Select ENSP00000361021.3:p.Pro246Gln
ENST00000371953.7:c.737C>A ENSP00000361021.3:p.Pro246Gln
ENST00000472832.2:c.164C>A ENSP00000483066.1:p.Pro55Gln
NM_000314.5:c.737C>A NP_000305.3:p.Pro246Gln
NM_000314.6:c.737C>A NP_000305.3:p.Pro246Gln
NM_001304717.2:c.1256C>A NP_001291646.2:p.Pro419Gln
NM_001304718.1:c.146C>A NP_001291647.1:p.Pro49Gln
XM_006717926.2:c.692C>A XP_006717989.1:p.Pro231Gln
XM_011539981.1:c.737C>A XP_011538283.1:p.Pro246Gln
XM_011539982.1:c.641C>A XP_011538284.1:p.Pro214Gln
XR_945791.1:n.1307C>A
NM_000314.7:c.737C>A NP_000305.3:p.Pro246Gln
NM_001304717.5:c.1256C>A NP_001291646.4:p.Pro419Gln
NM_001304718.2:c.146C>A NP_001291647.1:p.Pro49Gln
NM_000314.8:c.737C>A MANE Select NP_000305.3:p.Pro246Gln