Canonical Allele Identifier: CA000640

Gene: PTEN

Linked Data

• ClinVar Variation Id: 141717
• ClinVar RCV Id: RCV000130338 ; RCV001284224 ; RCV002286570
• dbSNP Id: rs587781959
• gnomAD v4: 10-87863539-G-A
• MyVariant Identifiers: chr10:g.89623296G>A (hg19) ; chr10:g.87863539G>A (hg38)
• PubMed: PMID:12844284 ; PMID:21417916 ; PMID:23315997
• ERepo: CA000640/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863539G>A , CM000672.2:g.87863539G>A	GRCh38
NC_000010.10:g.89623296G>A , CM000672.1:g.89623296G>A	GRCh37
NC_000010.9:g.89613276G>A	NCBI36
NG_007466.2:g.5102G>A , LRG_311:g.5102G>A
NG_033079.1:g.4899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+897G>A	ENSP00000516674.1:n.-17+897G>A
ENST00000688308.1:c.-17+426G>A	ENSP00000508752.1:n.-17+426G>A
ENST00000693560.1:c.-411G>A	ENSP00000509861.1:n.-411G>A
ENST00000371953.7:c.-931G>A	ENSP00000361021.3:n.-931G>A
ENST00000610634.1:c.-1033G>A	ENSP00000477517.1:n.-1033G>A
NM_000314.5:c.-930G>A	NP_000305.3:n.-930G>A
NM_000314.6:c.-930G>A	NP_000305.3:n.-930G>A
NM_001304717.2:c.-411G>A	NP_001291646.2:n.-411G>A
NM_001304718.1:c.-1635G>A	NP_001291647.1:n.-1635G>A