Canonical Allele Identifier: CA377485580

Gene: PTEN

Linked Data

• ClinVar Variation Id: 954195
• ClinVar RCV Id: RCV001226612 ; RCV002447138
• dbSNP Id: rs1860619555
• MyVariant Identifiers: chr10:g.89720694G>A (hg19) ; chr10:g.87960937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960937G>A , CM000672.2:g.87960937G>A	GRCh38
NC_000010.10:g.89720694G>A , CM000672.1:g.89720694G>A	GRCh37
NC_000010.9:g.89710674G>A	NCBI36
NG_007466.2:g.102499G>A , LRG_311:g.102499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.938G>A	ENSP00000514759.2:p.Gly313Glu
ENST00000710265.1:c.845G>A	ENSP00000518161.1:p.Gly282Glu
ENST00000472832.3:c.845G>A	ENSP00000483066.2:p.Gly282Glu
ENST00000688158.2:n.1580G>A
ENST00000688922.2:c.*675G>A	ENSP00000508742.2:n.*675G>A
ENST00000700021.1:c.800G>A	ENSP00000514757.1:p.Gly267Glu
ENST00000700022.1:c.*184G>A	ENSP00000514758.1:n.*184G>A
ENST00000700023.1:n.2003G>A
ENST00000700024.1:n.2237G>A
ENST00000700025.1:n.1614G>A
ENST00000700026.1:n.482G>A
ENST00000700029.1:c.772G>A
ENST00000706954.1:c.845G>A	ENSP00000516674.1:p.Gly282Glu
ENST00000706955.1:c.*880G>A	ENSP00000516675.1:n.*880G>A
ENST00000686459.1:c.*431G>A	ENSP00000508909.1:n.*431G>A
ENST00000688158.1:c.*956G>A	ENSP00000509254.1:n.*956G>A
ENST00000688308.1:c.845G>A	ENSP00000508752.1:p.Gly282Glu
ENST00000688922.1:c.766G>A
ENST00000693560.1:c.1364G>A	ENSP00000509861.1:p.Gly455Glu
ENST00000371953.8:c.845G>A MANE Select	ENSP00000361021.3:p.Gly282Glu
ENST00000371953.7:c.845G>A	ENSP00000361021.3:p.Gly282Glu
ENST00000472832.2:c.272G>A	ENSP00000483066.1:p.Gly91Glu
NM_000314.5:c.845G>A	NP_000305.3:p.Gly282Glu
NM_000314.6:c.845G>A	NP_000305.3:p.Gly282Glu
NM_001304717.2:c.1364G>A	NP_001291646.2:p.Gly455Glu
NM_001304718.1:c.254G>A	NP_001291647.1:p.Gly85Glu
XM_006717926.2:c.800G>A	XP_006717989.1:p.Gly267Glu
XM_011539981.1:c.845G>A	XP_011538283.1:p.Gly282Glu
XM_011539982.1:c.749G>A	XP_011538284.1:p.Gly250Glu
XR_945791.1:n.1415G>A
NM_000314.7:c.845G>A	NP_000305.3:p.Gly282Glu
NM_001304717.5:c.1364G>A	NP_001291646.4:p.Gly455Glu
NM_001304718.2:c.254G>A	NP_001291647.1:p.Gly85Glu
NM_000314.8:c.845G>A MANE Select	NP_000305.3:p.Gly282Glu