Canonical Allele Identifier: CA377485555

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2774185
• ClinVar RCV Id: RCV003585773
• MyVariant Identifiers: chr10:g.89720688T>A (hg19) ; chr10:g.87960931T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960931T>A , CM000672.2:g.87960931T>A	GRCh38
NC_000010.10:g.89720688T>A , CM000672.1:g.89720688T>A	GRCh37
NC_000010.9:g.89710668T>A	NCBI36
NG_007466.2:g.102493T>A , LRG_311:g.102493T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.932T>A	ENSP00000514759.2:p.Ile311Lys
ENST00000710265.1:c.839T>A	ENSP00000518161.1:p.Ile280Lys
ENST00000472832.3:c.839T>A	ENSP00000483066.2:p.Ile280Lys
ENST00000688158.2:n.1574T>A
ENST00000688922.2:c.*669T>A	ENSP00000508742.2:n.*669T>A
ENST00000700021.1:c.794T>A	ENSP00000514757.1:p.Ile265Lys
ENST00000700022.1:c.*178T>A	ENSP00000514758.1:n.*178T>A
ENST00000700023.1:n.1997T>A
ENST00000700024.1:n.2231T>A
ENST00000700025.1:n.1608T>A
ENST00000700026.1:n.476T>A
ENST00000700029.1:c.766T>A
ENST00000706954.1:c.839T>A	ENSP00000516674.1:p.Ile280Lys
ENST00000706955.1:c.*874T>A	ENSP00000516675.1:n.*874T>A
ENST00000686459.1:c.*425T>A	ENSP00000508909.1:n.*425T>A
ENST00000688158.1:c.*950T>A	ENSP00000509254.1:n.*950T>A
ENST00000688308.1:c.839T>A	ENSP00000508752.1:p.Ile280Lys
ENST00000688922.1:c.760T>A
ENST00000693560.1:c.1358T>A	ENSP00000509861.1:p.Ile453Lys
ENST00000371953.8:c.839T>A MANE Select	ENSP00000361021.3:p.Ile280Lys
ENST00000371953.7:c.839T>A	ENSP00000361021.3:p.Ile280Lys
ENST00000472832.2:c.266T>A	ENSP00000483066.1:p.Ile89Lys
NM_000314.5:c.839T>A	NP_000305.3:p.Ile280Lys
NM_000314.6:c.839T>A	NP_000305.3:p.Ile280Lys
NM_001304717.2:c.1358T>A	NP_001291646.2:p.Ile453Lys
NM_001304718.1:c.248T>A	NP_001291647.1:p.Ile83Lys
XM_006717926.2:c.794T>A	XP_006717989.1:p.Ile265Lys
XM_011539981.1:c.839T>A	XP_011538283.1:p.Ile280Lys
XM_011539982.1:c.743T>A	XP_011538284.1:p.Ile248Lys
XR_945791.1:n.1409T>A
NM_000314.7:c.839T>A	NP_000305.3:p.Ile280Lys
NM_001304717.5:c.1358T>A	NP_001291646.4:p.Ile453Lys
NM_001304718.2:c.248T>A	NP_001291647.1:p.Ile83Lys
NM_000314.8:c.839T>A MANE Select	NP_000305.3:p.Ile280Lys