Canonical Allele Identifier: CA16613238

Gene: PTEN

Linked Data

• ClinVar Variation Id: 404160
• ClinVar RCV Id: RCV000471888 ; RCV001027175 ; RCV003449110
• dbSNP Id: rs886041877
• COSMIC: COSM5134
• MyVariant Identifiers: chr10:g.89653782A>G (hg19) ; chr10:g.87894025A>G (hg38)
• ERepo: CA16613238/MONDO:0017623/003
• PubMed: PMID:11238682 ; PMID:12844284 ; PMID:15805158 ; PMID:17286265 ; PMID:17392703 ; PMID:17427195 ; PMID:19265751 ; PMID:19668082 ; PMID:21194675 ; PMID:22252256 ; PMID:23695273 ; PMID:24136893 ; PMID:25022750 ; PMID:25132236

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894025A>G , CM000672.2:g.87894025A>G	GRCh38
NC_000010.10:g.89653782A>G , CM000672.1:g.89653782A>G	GRCh37
NC_000010.9:g.89643762A>G	NCBI36
NG_007466.2:g.35587A>G , LRG_311:g.35587A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.80A>G	ENSP00000514759.2:p.Tyr27Cys
ENST00000710265.1:c.80A>G	ENSP00000518161.1:p.Tyr27Cys
ENST00000472832.3:c.80A>G	ENSP00000483066.2:p.Tyr27Cys
ENST00000688158.2:n.899+13587A>G
ENST00000688922.2:c.80A>G	ENSP00000508742.2:p.Tyr27Cys
ENST00000700021.1:c.80A>G	ENSP00000514757.1:p.Tyr27Cys
ENST00000700022.1:c.80A>G	ENSP00000514758.1:p.Tyr27Cys
ENST00000706954.1:c.80A>G	ENSP00000516674.1:p.Tyr27Cys
ENST00000706955.1:c.*115A>G	ENSP00000516675.1:n.*115A>G
ENST00000686459.1:c.80A>G	ENSP00000508909.1:p.Tyr27Cys
ENST00000688158.1:c.*275+13587A>G	ENSP00000509254.1:n.*275+13587A>G
ENST00000688308.1:c.80A>G	ENSP00000508752.1:p.Tyr27Cys
ENST00000693560.1:c.599A>G	ENSP00000509861.1:p.Tyr200Cys
ENST00000371953.8:c.80A>G MANE Select	ENSP00000361021.3:p.Tyr27Cys
ENST00000371953.7:c.80A>G	ENSP00000361021.3:p.Tyr27Cys
ENST00000462694.1:n.82A>G
ENST00000610634.1:c.-23A>G	ENSP00000477517.1:n.-23A>G
NM_000314.5:c.80A>G	NP_000305.3:p.Tyr27Cys
NM_000314.6:c.80A>G	NP_000305.3:p.Tyr27Cys
NM_001304717.2:c.599A>G	NP_001291646.2:p.Tyr200Cys
NM_001304718.1:c.-626A>G	NP_001291647.1:n.-626A>G
XM_006717926.2:c.80A>G	XP_006717989.1:p.Tyr27Cys
XM_011539981.1:c.80A>G	XP_011538283.1:p.Tyr27Cys
XM_011539982.1:c.68+13587A>G	XP_011538284.1:n.68+13587A>G
XR_945789.1:n.792A>G
XR_945790.1:n.792A>G
XR_945791.1:n.792A>G
NM_000314.7:c.80A>G	NP_000305.3:p.Tyr27Cys
NM_001304717.5:c.599A>G	NP_001291646.4:p.Tyr200Cys
NM_001304718.2:c.-626A>G	NP_001291647.1:n.-626A>G
NM_000314.8:c.80A>G MANE Select	NP_000305.3:p.Tyr27Cys