Canonical Allele Identifier: CA377485472
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960909T>A , CM000672.2:g.87960909T>A GRCh38
NC_000010.10:g.89720666T>A , CM000672.1:g.89720666T>A GRCh37
NC_000010.9:g.89710646T>A NCBI36
NG_007466.2:g.102471T>A , LRG_311:g.102471T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.910T>A ENSP00000514759.2:p.Phe304Ile
ENST00000710265.1:c.817T>A ENSP00000518161.1:p.Phe273Ile
ENST00000472832.3:c.817T>A ENSP00000483066.2:p.Phe273Ile
ENST00000688158.2:n.1552T>A
ENST00000688922.2:c.*647T>A ENSP00000508742.2:n.*647T>A
ENST00000700021.1:c.772T>A ENSP00000514757.1:p.Phe258Ile
ENST00000700022.1:c.*156T>A ENSP00000514758.1:n.*156T>A
ENST00000700023.1:n.1975T>A
ENST00000700024.1:n.2209T>A
ENST00000700025.1:n.1586T>A
ENST00000700026.1:n.454T>A
ENST00000700029.1:c.744T>A
ENST00000706954.1:c.817T>A ENSP00000516674.1:p.Phe273Ile
ENST00000706955.1:c.*852T>A ENSP00000516675.1:n.*852T>A
ENST00000686459.1:c.*403T>A ENSP00000508909.1:n.*403T>A
ENST00000688158.1:c.*928T>A ENSP00000509254.1:n.*928T>A
ENST00000688308.1:c.817T>A ENSP00000508752.1:p.Phe273Ile
ENST00000688922.1:c.738T>A
ENST00000693560.1:c.1336T>A ENSP00000509861.1:p.Phe446Ile
ENST00000371953.8:c.817T>A MANE Select ENSP00000361021.3:p.Phe273Ile
ENST00000371953.7:c.817T>A ENSP00000361021.3:p.Phe273Ile
ENST00000472832.2:c.244T>A ENSP00000483066.1:p.Phe82Ile
NM_000314.5:c.817T>A NP_000305.3:p.Phe273Ile
NM_000314.6:c.817T>A NP_000305.3:p.Phe273Ile
NM_001304717.2:c.1336T>A NP_001291646.2:p.Phe446Ile
NM_001304718.1:c.226T>A NP_001291647.1:p.Phe76Ile
XM_006717926.2:c.772T>A XP_006717989.1:p.Phe258Ile
XM_011539981.1:c.817T>A XP_011538283.1:p.Phe273Ile
XM_011539982.1:c.721T>A XP_011538284.1:p.Phe241Ile
XR_945791.1:n.1387T>A
NM_000314.7:c.817T>A NP_000305.3:p.Phe273Ile
NM_001304717.5:c.1336T>A NP_001291646.4:p.Phe446Ile
NM_001304718.2:c.226T>A NP_001291647.1:p.Phe76Ile
NM_000314.8:c.817T>A MANE Select NP_000305.3:p.Phe273Ile