Canonical Allele Identifier: CA377485750
Gene: PTEN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960984C>A , CM000672.2:g.87960984C>A GRCh38
NC_000010.10:g.89720741C>A , CM000672.1:g.89720741C>A GRCh37
NC_000010.9:g.89710721C>A NCBI36
NG_007466.2:g.102546C>A , LRG_311:g.102546C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.985C>A ENSP00000514759.2:p.Gln329Lys
ENST00000710265.1:c.892C>A ENSP00000518161.1:p.Gln298Lys
ENST00000472832.3:c.892C>A ENSP00000483066.2:p.Gln298Lys
ENST00000688158.2:n.1627C>A
ENST00000688922.2:c.*722C>A ENSP00000508742.2:n.*722C>A
ENST00000700021.1:c.847C>A ENSP00000514757.1:p.Gln283Lys
ENST00000700022.1:c.*231C>A ENSP00000514758.1:n.*231C>A
ENST00000700023.1:n.2050C>A
ENST00000700024.1:n.2284C>A
ENST00000700025.1:n.1661C>A
ENST00000700026.1:n.529C>A
ENST00000706954.1:c.892C>A ENSP00000516674.1:p.Gln298Lys
ENST00000706955.1:c.*927C>A ENSP00000516675.1:n.*927C>A
ENST00000686459.1:c.*478C>A ENSP00000508909.1:n.*478C>A
ENST00000688158.1:c.*1003C>A ENSP00000509254.1:n.*1003C>A
ENST00000688308.1:c.892C>A ENSP00000508752.1:p.Gln298Lys
ENST00000688922.1:c.813C>A
ENST00000693560.1:c.1411C>A ENSP00000509861.1:p.Gln471Lys
ENST00000371953.8:c.892C>A MANE Select ENSP00000361021.3:p.Gln298Lys
ENST00000371953.7:c.892C>A ENSP00000361021.3:p.Gln298Lys
ENST00000472832.2:c.319C>A ENSP00000483066.1:p.Gln107Lys
NM_000314.5:c.892C>A NP_000305.3:p.Gln298Lys
NM_000314.6:c.892C>A NP_000305.3:p.Gln298Lys
NM_001304717.2:c.1411C>A NP_001291646.2:p.Gln471Lys
NM_001304718.1:c.301C>A NP_001291647.1:p.Gln101Lys
XM_006717926.2:c.847C>A XP_006717989.1:p.Gln283Lys
XM_011539981.1:c.892C>A XP_011538283.1:p.Gln298Lys
XM_011539982.1:c.796C>A XP_011538284.1:p.Gln266Lys
XR_945791.1:n.1462C>A
NM_000314.7:c.892C>A NP_000305.3:p.Gln298Lys
NM_001304717.5:c.1411C>A NP_001291646.4:p.Gln471Lys
NM_001304718.2:c.301C>A NP_001291647.1:p.Gln101Lys
NM_000314.8:c.892C>A MANE Select NP_000305.3:p.Gln298Lys