Canonical Allele Identifier: CA377487096

Gene: PTEN

Linked Data

• ClinVar Variation Id: 630756
• ClinVar RCV Id: RCV000776751
• dbSNP Id: rs1564570264
• COSMIC: COSM1684699
• MyVariant Identifiers: chr10:g.89725045T>G (hg19) ; chr10:g.87965288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965288T>G , CM000672.2:g.87965288T>G	GRCh38
NC_000010.10:g.89725045T>G , CM000672.1:g.89725045T>G	GRCh37
NC_000010.9:g.89715025T>G	NCBI36
NG_007466.2:g.106850T>G , LRG_311:g.106850T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1121T>G	ENSP00000514759.2:p.Val374Gly
ENST00000710265.1:c.*57T>G	ENSP00000518161.1:n.*57T>G
ENST00000688158.2:n.1763T>G
ENST00000688922.2:c.*858T>G	ENSP00000508742.2:n.*858T>G
ENST00000700021.1:c.983T>G	ENSP00000514757.1:p.Val328Gly
ENST00000700022.1:c.*367T>G	ENSP00000514758.1:n.*367T>G
ENST00000700023.1:n.2186T>G
ENST00000700024.1:n.2420T>G
ENST00000706954.1:c.1028T>G	ENSP00000516674.1:p.Val343Gly
ENST00000706955.1:c.*1063T>G	ENSP00000516675.1:n.*1063T>G
ENST00000686459.1:c.*614T>G	ENSP00000508909.1:n.*614T>G
ENST00000688158.1:c.*1139T>G	ENSP00000509254.1:n.*1139T>G
ENST00000688308.1:c.1028T>G	ENSP00000508752.1:p.Val343Gly
ENST00000688922.1:c.949T>G
ENST00000693560.1:c.1547T>G	ENSP00000509861.1:p.Val516Gly
ENST00000371953.8:c.1028T>G MANE Select	ENSP00000361021.3:p.Val343Gly
ENST00000371953.7:c.1028T>G	ENSP00000361021.3:p.Val343Gly
NM_000314.5:c.1028T>G	NP_000305.3:p.Val343Gly
NM_000314.6:c.1028T>G	NP_000305.3:p.Val343Gly
NM_001304717.2:c.1547T>G	NP_001291646.2:p.Val516Gly
NM_001304718.1:c.437T>G	NP_001291647.1:p.Val146Gly
XM_006717926.2:c.983T>G	XP_006717989.1:p.Val328Gly
XM_011539982.1:c.932T>G	XP_011538284.1:p.Val311Gly
XR_945791.1:n.1598T>G
NM_000314.7:c.1028T>G	NP_000305.3:p.Val343Gly
NM_001304717.5:c.1547T>G	NP_001291646.4:p.Val516Gly
NM_001304718.2:c.437T>G	NP_001291647.1:p.Val146Gly
NM_000314.8:c.1028T>G MANE Select	NP_000305.3:p.Val343Gly