Canonical Allele Identifier: CA377487187

Gene: PTEN

Linked Data

• ClinVar Variation Id: 961773
• ClinVar RCV Id: RCV001235531
• dbSNP Id: rs1554826040
• MyVariant Identifiers: chr10:g.89725089G>A (hg19) ; chr10:g.87965332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965332G>A , CM000672.2:g.87965332G>A	GRCh38
NC_000010.10:g.89725089G>A , CM000672.1:g.89725089G>A	GRCh37
NC_000010.9:g.89715069G>A	NCBI36
NG_007466.2:g.106894G>A , LRG_311:g.106894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1165G>A	ENSP00000514759.2:p.Glu389Lys
ENST00000710265.1:c.*101G>A	ENSP00000518161.1:n.*101G>A
ENST00000688158.2:n.1807G>A
ENST00000688922.2:c.*902G>A	ENSP00000508742.2:n.*902G>A
ENST00000700021.1:c.1027G>A	ENSP00000514757.1:p.Glu343Lys
ENST00000700022.1:c.*411G>A	ENSP00000514758.1:n.*411G>A
ENST00000700023.1:n.2230G>A
ENST00000700024.1:n.2464G>A
ENST00000706954.1:c.1072G>A	ENSP00000516674.1:p.Glu358Lys
ENST00000706955.1:c.*1107G>A	ENSP00000516675.1:n.*1107G>A
ENST00000686459.1:c.*658G>A	ENSP00000508909.1:n.*658G>A
ENST00000688158.1:c.*1183G>A	ENSP00000509254.1:n.*1183G>A
ENST00000688308.1:c.1072G>A	ENSP00000508752.1:p.Glu358Lys
ENST00000688922.1:c.993G>A
ENST00000693560.1:c.1591G>A	ENSP00000509861.1:p.Glu531Lys
ENST00000371953.8:c.1072G>A MANE Select	ENSP00000361021.3:p.Glu358Lys
ENST00000371953.7:c.1072G>A	ENSP00000361021.3:p.Glu358Lys
NM_000314.5:c.1072G>A	NP_000305.3:p.Glu358Lys
NM_000314.6:c.1072G>A	NP_000305.3:p.Glu358Lys
NM_001304717.2:c.1591G>A	NP_001291646.2:p.Glu531Lys
NM_001304718.1:c.481G>A	NP_001291647.1:p.Glu161Lys
XM_006717926.2:c.1027G>A	XP_006717989.1:p.Glu343Lys
XM_011539982.1:c.976G>A	XP_011538284.1:p.Glu326Lys
XR_945791.1:n.1642G>A
NM_000314.7:c.1072G>A	NP_000305.3:p.Glu358Lys
NM_001304717.5:c.1591G>A	NP_001291646.4:p.Glu531Lys
NM_001304718.2:c.481G>A	NP_001291647.1:p.Glu161Lys
NM_000314.8:c.1072G>A MANE Select	NP_000305.3:p.Glu358Lys