Canonical Allele Identifier: CA377481229

Gene: PTEN

Linked Data

• ClinVar Variation Id: 427616
• ClinVar RCV Id: RCV000491234 ; RCV000507780 ; RCV000515846 ; RCV000645050
• dbSNP Id: rs1114167621
• COSMIC: COSM921076
• MyVariant Identifiers: chr10:g.89690802G>A (hg19) ; chr10:g.87931045G>A (hg38)
• PubMed: PMID:11071384 ; PMID:16014636 ; PMID:20600018 ; PMID:21956414 ; PMID:22381246 ; PMID:23066114 ; PMID:28677221

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87931045G>A , CM000672.2:g.87931045G>A	GRCh38
NC_000010.10:g.89690802G>A , CM000672.1:g.89690802G>A	GRCh37
NC_000010.9:g.89680782G>A	NCBI36
NG_007466.2:g.72607G>A , LRG_311:g.72607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.210-1G>A	ENSP00000514759.2:n.210-1G>A
ENST00000710265.1:c.210-1G>A	ENSP00000518161.1:n.210-1G>A
ENST00000472832.3:c.210-1G>A	ENSP00000483066.2:n.210-1G>A
ENST00000688158.2:n.945-1G>A
ENST00000688922.2:c.*40-1G>A	ENSP00000508742.2:n.*40-1G>A
ENST00000700021.1:c.165-1G>A	ENSP00000514757.1:n.165-1G>A
ENST00000700022.1:c.210-1G>A	ENSP00000514758.1:n.210-1G>A
ENST00000700029.1:c.44-1G>A
ENST00000706954.1:c.210-1G>A	ENSP00000516674.1:n.210-1G>A
ENST00000706955.1:c.*245-1G>A	ENSP00000516675.1:n.*245-1G>A
ENST00000686459.1:c.210-1G>A	ENSP00000508909.1:n.210-1G>A
ENST00000688158.1:c.*321-1G>A	ENSP00000509254.1:n.*321-1G>A
ENST00000688308.1:c.210-1G>A	ENSP00000508752.1:n.210-1G>A
ENST00000688922.1:c.131-1G>A
ENST00000693560.1:c.729-1G>A	ENSP00000509861.1:n.729-1G>A
ENST00000371953.8:c.210-1G>A MANE Select	ENSP00000361021.3:n.210-1G>A
ENST00000371953.7:c.210-1G>A	ENSP00000361021.3:n.210-1G>A
ENST00000498703.1:n.36-1G>A
ENST00000610634.1:c.108-1G>A	ENSP00000477517.1:n.108-1G>A
NM_000314.5:c.210-1G>A	NP_000305.3:n.210-1G>A
NM_000314.6:c.210-1G>A	NP_000305.3:n.210-1G>A
NM_001304717.2:c.729-1G>A	NP_001291646.2:n.729-1G>A
NM_001304718.1:c.-541-1G>A	NP_001291647.1:n.-541-1G>A
XM_006717926.2:c.165-1G>A	XP_006717989.1:n.165-1G>A
XM_011539981.1:c.210-1G>A	XP_011538283.1:n.210-1G>A
XM_011539982.1:c.114-1G>A	XP_011538284.1:n.114-1G>A
XR_945789.1:n.922-1G>A
XR_945790.1:n.922-1G>A
XR_945791.1:n.922-1G>A
NM_000314.7:c.210-1G>A	NP_000305.3:n.210-1G>A
NM_001304717.5:c.729-1G>A	NP_001291646.4:n.729-1G>A
NM_001304718.2:c.-541-1G>A	NP_001291647.1:n.-541-1G>A
NM_000314.8:c.210-1G>A MANE Select	NP_000305.3:n.210-1G>A