Canonical Allele Identifier: CA000149

Gene: PTEN

Linked Data

• ClinVar Variation Id: 185817
• ClinVar RCV Id: RCV002517621
• dbSNP Id: rs121909223
• COSMIC: COSM3807904
• MyVariant Identifiers: chr10:g.89692886T>G (hg19) ; chr10:g.87933129T>G (hg38)
• PubMed: PMID:17324556 ; PMID:20685300

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933129T>G , CM000672.2:g.87933129T>G	GRCh38
NC_000010.10:g.89692886T>G , CM000672.1:g.89692886T>G	GRCh37
NC_000010.9:g.89682866T>G	NCBI36
NG_007466.2:g.74691T>G , LRG_311:g.74691T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.370T>G	ENSP00000514759.2:p.Cys124Gly
ENST00000710265.1:c.370T>G	ENSP00000518161.1:p.Cys124Gly
ENST00000472832.3:c.370T>G	ENSP00000483066.2:p.Cys124Gly
ENST00000688158.2:n.1105T>G
ENST00000688922.2:c.*200T>G	ENSP00000508742.2:n.*200T>G
ENST00000700021.1:c.325T>G	ENSP00000514757.1:p.Cys109Gly
ENST00000700022.1:c.370T>G	ENSP00000514758.1:p.Cys124Gly
ENST00000700029.1:c.204T>G
ENST00000706954.1:c.370T>G	ENSP00000516674.1:p.Cys124Gly
ENST00000706955.1:c.*405T>G	ENSP00000516675.1:n.*405T>G
ENST00000686459.1:c.370T>G	ENSP00000508909.1:p.Cys124Gly
ENST00000688158.1:c.*481T>G	ENSP00000509254.1:n.*481T>G
ENST00000688308.1:c.370T>G	ENSP00000508752.1:p.Cys124Gly
ENST00000688922.1:c.291T>G
ENST00000693560.1:c.889T>G	ENSP00000509861.1:p.Cys297Gly
ENST00000371953.8:c.370T>G MANE Select	ENSP00000361021.3:p.Cys124Gly
ENST00000371953.7:c.370T>G	ENSP00000361021.3:p.Cys124Gly
ENST00000498703.1:n.196T>G
ENST00000610634.1:c.268T>G	ENSP00000477517.1:p.Cys90Gly
NM_000314.5:c.370T>G	NP_000305.3:p.Cys124Gly
NM_000314.6:c.370T>G	NP_000305.3:p.Cys124Gly
NM_001304717.2:c.889T>G	NP_001291646.2:p.Cys297Gly
NM_001304718.1:c.-381T>G	NP_001291647.1:n.-381T>G
XM_006717926.2:c.325T>G	XP_006717989.1:p.Cys109Gly
XM_011539981.1:c.370T>G	XP_011538283.1:p.Cys124Gly
XM_011539982.1:c.274T>G	XP_011538284.1:p.Cys92Gly
XR_945789.1:n.1082T>G
XR_945790.1:n.1082T>G
XR_945791.1:n.1082T>G
NM_000314.7:c.370T>G	NP_000305.3:p.Cys124Gly
NM_001304717.5:c.889T>G	NP_001291646.4:p.Cys297Gly
NM_001304718.2:c.-381T>G	NP_001291647.1:n.-381T>G
NM_000314.8:c.370T>G MANE Select	NP_000305.3:p.Cys124Gly