Canonical Allele Identifier: CA000112

Gene: PTEN

Linked Data

• ClinVar Variation Id: 185298
• ClinVar RCV Id: RCV000164693 ; RCV000180491
• dbSNP Id: rs35979531
• MyVariant Identifiers: chr10:g.89725121T>A (hg19) ; chr10:g.87965364T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965364T>A , CM000672.2:g.87965364T>A	GRCh38
NC_000010.10:g.89725121T>A , CM000672.1:g.89725121T>A	GRCh37
NC_000010.9:g.89715101T>A	NCBI36
NG_007466.2:g.106926T>A , LRG_311:g.106926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1197T>A	ENSP00000514759.2:p.Asp399Glu
ENST00000710265.1:c.*133T>A	ENSP00000518161.1:n.*133T>A
ENST00000688158.2:n.1839T>A
ENST00000688922.2:c.*934T>A	ENSP00000508742.2:n.*934T>A
ENST00000700021.1:c.1059T>A	ENSP00000514757.1:p.Asp353Glu
ENST00000700022.1:c.*443T>A	ENSP00000514758.1:n.*443T>A
ENST00000700023.1:n.2262T>A
ENST00000700024.1:n.2496T>A
ENST00000706954.1:c.1104T>A	ENSP00000516674.1:p.Asp368Glu
ENST00000706955.1:c.*1139T>A	ENSP00000516675.1:n.*1139T>A
ENST00000686459.1:c.*690T>A	ENSP00000508909.1:n.*690T>A
ENST00000688158.1:c.*1215T>A	ENSP00000509254.1:n.*1215T>A
ENST00000688308.1:c.1104T>A	ENSP00000508752.1:p.Asp368Glu
ENST00000688922.1:c.1025T>A
ENST00000693560.1:c.1623T>A	ENSP00000509861.1:p.Asp541Glu
ENST00000371953.8:c.1104T>A MANE Select	ENSP00000361021.3:p.Asp368Glu
ENST00000371953.7:c.1104T>A	ENSP00000361021.3:p.Asp368Glu
NM_000314.5:c.1104T>A	NP_000305.3:p.Asp368Glu
NM_000314.6:c.1104T>A	NP_000305.3:p.Asp368Glu
NM_001304717.2:c.1623T>A	NP_001291646.2:p.Asp541Glu
NM_001304718.1:c.513T>A	NP_001291647.1:p.Asp171Glu
XM_006717926.2:c.1059T>A	XP_006717989.1:p.Asp353Glu
XM_011539982.1:c.1008T>A	XP_011538284.1:p.Asp336Glu
XR_945791.1:n.1674T>A
NM_000314.7:c.1104T>A	NP_000305.3:p.Asp368Glu
NM_001304717.5:c.1623T>A	NP_001291646.4:p.Asp541Glu
NM_001304718.2:c.513T>A	NP_001291647.1:p.Asp171Glu
NM_000314.8:c.1104T>A MANE Select	NP_000305.3:p.Asp368Glu