Canonical Allele Identifier: CA000219

Gene: PTEN

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.985C>T	ENSP00000514759.2:p.Gln329Ter
ENST00000710265.1:c.892C>T	ENSP00000518161.1:p.Gln298Ter
ENST00000472832.3:c.892C>T	ENSP00000483066.2:p.Gln298Ter
ENST00000688158.2:n.1627C>T
ENST00000688922.2:c.*722C>T	ENSP00000508742.2:n.*722C>T
ENST00000700021.1:c.847C>T	ENSP00000514757.1:p.Gln283Ter
ENST00000700022.1:c.*231C>T	ENSP00000514758.1:n.*231C>T
ENST00000700023.1:n.2050C>T
ENST00000700024.1:n.2284C>T
ENST00000700025.1:n.1661C>T
ENST00000700026.1:n.529C>T
ENST00000706954.1:c.892C>T	ENSP00000516674.1:p.Gln298Ter
ENST00000706955.1:c.*927C>T	ENSP00000516675.1:n.*927C>T
ENST00000686459.1:c.*478C>T	ENSP00000508909.1:n.*478C>T
ENST00000688158.1:c.*1003C>T	ENSP00000509254.1:n.*1003C>T
ENST00000688308.1:c.892C>T	ENSP00000508752.1:p.Gln298Ter
ENST00000688922.1:c.813C>T
ENST00000693560.1:c.1411C>T	ENSP00000509861.1:p.Gln471Ter
ENST00000371953.8:c.892C>T MANE Select	ENSP00000361021.3:p.Gln298Ter
ENST00000371953.7:c.892C>T	ENSP00000361021.3:p.Gln298Ter
ENST00000472832.2:c.319C>T	ENSP00000483066.1:p.Gln107Ter
NM_000314.5:c.892C>T	NP_000305.3:p.Gln298Ter
NM_000314.6:c.892C>T	NP_000305.3:p.Gln298Ter
NM_001304717.2:c.1411C>T	NP_001291646.2:p.Gln471Ter
NM_001304718.1:c.301C>T	NP_001291647.1:p.Gln101Ter
XM_006717926.2:c.847C>T	XP_006717989.1:p.Gln283Ter
XM_011539981.1:c.892C>T	XP_011538283.1:p.Gln298Ter
XM_011539982.1:c.796C>T	XP_011538284.1:p.Gln266Ter
XR_945791.1:n.1462C>T
NM_000314.7:c.892C>T	NP_000305.3:p.Gln298Ter
NM_001304717.5:c.1411C>T	NP_001291646.4:p.Gln471Ter
NM_001304718.2:c.301C>T	NP_001291647.1:p.Gln101Ter
NM_000314.8:c.892C>T MANE Select	NP_000305.3:p.Gln298Ter