Canonical Allele Identifier: CA377485647
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960956A>T , CM000672.2:g.87960956A>T GRCh38
NC_000010.10:g.89720713A>T , CM000672.1:g.89720713A>T GRCh37
NC_000010.9:g.89710693A>T NCBI36
NG_007466.2:g.102518A>T , LRG_311:g.102518A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.957A>T ENSP00000514759.2:p.Glu319Asp
ENST00000710265.1:c.864A>T ENSP00000518161.1:p.Glu288Asp
ENST00000472832.3:c.864A>T ENSP00000483066.2:p.Glu288Asp
ENST00000688158.2:n.1599A>T
ENST00000688922.2:c.*694A>T ENSP00000508742.2:n.*694A>T
ENST00000700021.1:c.819A>T ENSP00000514757.1:p.Glu273Asp
ENST00000700022.1:c.*203A>T ENSP00000514758.1:n.*203A>T
ENST00000700023.1:n.2022A>T
ENST00000700024.1:n.2256A>T
ENST00000700025.1:n.1633A>T
ENST00000700026.1:n.501A>T
ENST00000700029.1:c.791A>T
ENST00000706954.1:c.864A>T ENSP00000516674.1:p.Glu288Asp
ENST00000706955.1:c.*899A>T ENSP00000516675.1:n.*899A>T
ENST00000686459.1:c.*450A>T ENSP00000508909.1:n.*450A>T
ENST00000688158.1:c.*975A>T ENSP00000509254.1:n.*975A>T
ENST00000688308.1:c.864A>T ENSP00000508752.1:p.Glu288Asp
ENST00000688922.1:c.785A>T
ENST00000693560.1:c.1383A>T ENSP00000509861.1:p.Glu461Asp
ENST00000371953.8:c.864A>T MANE Select ENSP00000361021.3:p.Glu288Asp
ENST00000371953.7:c.864A>T ENSP00000361021.3:p.Glu288Asp
ENST00000472832.2:c.291A>T ENSP00000483066.1:p.Glu97Asp
NM_000314.5:c.864A>T NP_000305.3:p.Glu288Asp
NM_000314.6:c.864A>T NP_000305.3:p.Glu288Asp
NM_001304717.2:c.1383A>T NP_001291646.2:p.Glu461Asp
NM_001304718.1:c.273A>T NP_001291647.1:p.Glu91Asp
XM_006717926.2:c.819A>T XP_006717989.1:p.Glu273Asp
XM_011539981.1:c.864A>T XP_011538283.1:p.Glu288Asp
XM_011539982.1:c.768A>T XP_011538284.1:p.Glu256Asp
XR_945791.1:n.1434A>T
NM_000314.7:c.864A>T NP_000305.3:p.Glu288Asp
NM_001304717.5:c.1383A>T NP_001291646.4:p.Glu461Asp
NM_001304718.2:c.273A>T NP_001291647.1:p.Glu91Asp
NM_000314.8:c.864A>T MANE Select NP_000305.3:p.Glu288Asp