Canonical Allele Identifier: CA470973967

Gene: PTEN

Linked Data

• ClinVar Variation Id: 798333
• ClinVar RCV Id: RCV001498081
• dbSNP Id: rs1060503843
• MyVariant Identifiers: chr10:g.89720728A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960971A>G , CM000672.2:g.87960971A>G	GRCh38
NC_000010.10:g.89720728A>G , CM000672.1:g.89720728A>G	GRCh37
NC_000010.9:g.89710708A>G	NCBI36
NG_007466.2:g.102533A>G , LRG_311:g.102533A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.972A>G	ENSP00000514759.2:p.Gly324=
ENST00000710265.1:c.879A>G	ENSP00000518161.1:p.Gly293=
ENST00000472832.3:c.879A>G	ENSP00000483066.2:p.Gly293=
ENST00000688158.2:n.1614A>G
ENST00000688922.2:c.*709A>G	ENSP00000508742.2:n.*709A>G
ENST00000700021.1:c.834A>G	ENSP00000514757.1:p.Gly278=
ENST00000700022.1:c.*218A>G	ENSP00000514758.1:n.*218A>G
ENST00000700023.1:n.2037A>G
ENST00000700024.1:n.2271A>G
ENST00000700025.1:n.1648A>G
ENST00000700026.1:n.516A>G
ENST00000700029.1:c.806A>G
ENST00000706954.1:c.879A>G	ENSP00000516674.1:p.Gly293=
ENST00000706955.1:c.*914A>G	ENSP00000516675.1:n.*914A>G
ENST00000686459.1:c.*465A>G	ENSP00000508909.1:n.*465A>G
ENST00000688158.1:c.*990A>G	ENSP00000509254.1:n.*990A>G
ENST00000688308.1:c.879A>G	ENSP00000508752.1:p.Gly293=
ENST00000688922.1:c.800A>G
ENST00000693560.1:c.1398A>G	ENSP00000509861.1:p.Gly466=
ENST00000371953.8:c.879A>G MANE Select	ENSP00000361021.3:p.Gly293=
ENST00000371953.7:c.879A>G	ENSP00000361021.3:p.Gly293=
ENST00000472832.2:c.306A>G	ENSP00000483066.1:p.Gly102=
NM_000314.5:c.879A>G	NP_000305.3:p.Gly293=
NM_000314.6:c.879A>G	NP_000305.3:p.Gly293=
NM_001304717.2:c.1398A>G	NP_001291646.2:p.Gly466=
NM_001304718.1:c.288A>G	NP_001291647.1:p.Gly96=
XM_006717926.2:c.834A>G	XP_006717989.1:p.Gly278=
XM_011539981.1:c.879A>G	XP_011538283.1:p.Gly293=
XM_011539982.1:c.783A>G	XP_011538284.1:p.Gly261=
XR_945791.1:n.1449A>G
NM_000314.7:c.879A>G	NP_000305.3:p.Gly293=
NM_001304717.5:c.1398A>G	NP_001291646.4:p.Gly466=
NM_001304718.2:c.288A>G	NP_001291647.1:p.Gly96=
NM_000314.8:c.879A>G MANE Select	NP_000305.3:p.Gly293=