Canonical Allele Identifier: CA000596

Gene: PTEN

Linked Data

• ClinVar Variation Id: 92834
• ClinVar RCV Id: RCV000771101 ; RCV001464371 ; RCV002465512 ; RCV003237439
• dbSNP Id: rs398123328
• ExAC: 10:89720653 C / A
• gnomAD v2: 10-89720653-C-A
• gnomAD v3: 10-87960896-C-A
• gnomAD v4: 10-87960896-C-A
• MyVariant Identifiers: chr10:g.89720653C>A (hg19) ; chr10:g.87960896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960896C>A , CM000672.2:g.87960896C>A	GRCh38
NC_000010.10:g.89720653C>A , CM000672.1:g.89720653C>A	GRCh37
NC_000010.9:g.89710633C>A	NCBI36
NG_007466.2:g.102458C>A , LRG_311:g.102458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.897C>A	ENSP00000514759.2:p.Asp299Glu
ENST00000710265.1:c.804C>A	ENSP00000518161.1:p.Asp268Glu
ENST00000472832.3:c.804C>A	ENSP00000483066.2:p.Asp268Glu
ENST00000688158.2:n.1539C>A
ENST00000688922.2:c.*634C>A	ENSP00000508742.2:n.*634C>A
ENST00000700021.1:c.759C>A	ENSP00000514757.1:p.Asp253Glu
ENST00000700022.1:c.*143C>A	ENSP00000514758.1:n.*143C>A
ENST00000700023.1:n.1962C>A
ENST00000700024.1:n.2196C>A
ENST00000700025.1:n.1573C>A
ENST00000700026.1:n.441C>A
ENST00000700029.1:c.731C>A
ENST00000706954.1:c.804C>A	ENSP00000516674.1:p.Asp268Glu
ENST00000706955.1:c.*839C>A	ENSP00000516675.1:n.*839C>A
ENST00000686459.1:c.*390C>A	ENSP00000508909.1:n.*390C>A
ENST00000688158.1:c.*915C>A	ENSP00000509254.1:n.*915C>A
ENST00000688308.1:c.804C>A	ENSP00000508752.1:p.Asp268Glu
ENST00000688922.1:c.725C>A
ENST00000693560.1:c.1323C>A	ENSP00000509861.1:p.Asp441Glu
ENST00000371953.8:c.804C>A MANE Select	ENSP00000361021.3:p.Asp268Glu
ENST00000371953.7:c.804C>A	ENSP00000361021.3:p.Asp268Glu
ENST00000472832.2:c.231C>A	ENSP00000483066.1:p.Asp77Glu
NM_000314.5:c.804C>A	NP_000305.3:p.Asp268Glu
NM_000314.6:c.804C>A	NP_000305.3:p.Asp268Glu
NM_001304717.2:c.1323C>A	NP_001291646.2:p.Asp441Glu
NM_001304718.1:c.213C>A	NP_001291647.1:p.Asp71Glu
XM_006717926.2:c.759C>A	XP_006717989.1:p.Asp253Glu
XM_011539981.1:c.804C>A	XP_011538283.1:p.Asp268Glu
XM_011539982.1:c.708C>A	XP_011538284.1:p.Asp236Glu
XR_945791.1:n.1374C>A
NM_000314.7:c.804C>A	NP_000305.3:p.Asp268Glu
NM_001304717.5:c.1323C>A	NP_001291646.4:p.Asp441Glu
NM_001304718.2:c.213C>A	NP_001291647.1:p.Asp71Glu
NM_000314.8:c.804C>A MANE Select	NP_000305.3:p.Asp268Glu