Canonical Allele Identifier: CA377485740
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960982A>C , CM000672.2:g.87960982A>C GRCh38
NC_000010.10:g.89720739A>C , CM000672.1:g.89720739A>C GRCh37
NC_000010.9:g.89710719A>C NCBI36
NG_007466.2:g.102544A>C , LRG_311:g.102544A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.983A>C ENSP00000514759.2:p.Asp328Ala
ENST00000710265.1:c.890A>C ENSP00000518161.1:p.Asp297Ala
ENST00000472832.3:c.890A>C ENSP00000483066.2:p.Asp297Ala
ENST00000688158.2:n.1625A>C
ENST00000688922.2:c.*720A>C ENSP00000508742.2:n.*720A>C
ENST00000700021.1:c.845A>C ENSP00000514757.1:p.Asp282Ala
ENST00000700022.1:c.*229A>C ENSP00000514758.1:n.*229A>C
ENST00000700023.1:n.2048A>C
ENST00000700024.1:n.2282A>C
ENST00000700025.1:n.1659A>C
ENST00000700026.1:n.527A>C
ENST00000706954.1:c.890A>C ENSP00000516674.1:p.Asp297Ala
ENST00000706955.1:c.*925A>C ENSP00000516675.1:n.*925A>C
ENST00000686459.1:c.*476A>C ENSP00000508909.1:n.*476A>C
ENST00000688158.1:c.*1001A>C ENSP00000509254.1:n.*1001A>C
ENST00000688308.1:c.890A>C ENSP00000508752.1:p.Asp297Ala
ENST00000688922.1:c.811A>C
ENST00000693560.1:c.1409A>C ENSP00000509861.1:p.Asp470Ala
ENST00000371953.8:c.890A>C MANE Select ENSP00000361021.3:p.Asp297Ala
ENST00000371953.7:c.890A>C ENSP00000361021.3:p.Asp297Ala
ENST00000472832.2:c.317A>C ENSP00000483066.1:p.Asp106Ala
NM_000314.5:c.890A>C NP_000305.3:p.Asp297Ala
NM_000314.6:c.890A>C NP_000305.3:p.Asp297Ala
NM_001304717.2:c.1409A>C NP_001291646.2:p.Asp470Ala
NM_001304718.1:c.299A>C NP_001291647.1:p.Asp100Ala
XM_006717926.2:c.845A>C XP_006717989.1:p.Asp282Ala
XM_011539981.1:c.890A>C XP_011538283.1:p.Asp297Ala
XM_011539982.1:c.794A>C XP_011538284.1:p.Asp265Ala
XR_945791.1:n.1460A>C
NM_000314.7:c.890A>C NP_000305.3:p.Asp297Ala
NM_001304717.5:c.1409A>C NP_001291646.4:p.Asp470Ala
NM_001304718.2:c.299A>C NP_001291647.1:p.Asp100Ala
NM_000314.8:c.890A>C MANE Select NP_000305.3:p.Asp297Ala