Canonical Allele Identifier: CA377485805

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428242
• ClinVar RCV Id: RCV000491506 ; RCV000645056
• dbSNP Id: rs1114167660
• gnomAD v4: 10-87960999-A-G
• MyVariant Identifiers: chr10:g.89720756A>G (hg19) ; chr10:g.87960999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960999A>G , CM000672.2:g.87960999A>G	GRCh38
NC_000010.10:g.89720756A>G , CM000672.1:g.89720756A>G	GRCh37
NC_000010.9:g.89710736A>G	NCBI36
NG_007466.2:g.102561A>G , LRG_311:g.102561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1000A>G	ENSP00000514759.2:p.Ile334Val
ENST00000710265.1:c.907A>G	ENSP00000518161.1:p.Ile303Val
ENST00000472832.3:c.907A>G	ENSP00000483066.2:p.Ile303Val
ENST00000688158.2:n.1642A>G
ENST00000688922.2:c.*737A>G	ENSP00000508742.2:n.*737A>G
ENST00000700021.1:c.862A>G	ENSP00000514757.1:p.Ile288Val
ENST00000700022.1:c.*246A>G	ENSP00000514758.1:n.*246A>G
ENST00000700023.1:n.2065A>G
ENST00000700024.1:n.2299A>G
ENST00000700025.1:n.1676A>G
ENST00000700026.1:n.544A>G
ENST00000706954.1:c.907A>G	ENSP00000516674.1:p.Ile303Val
ENST00000706955.1:c.*942A>G	ENSP00000516675.1:n.*942A>G
ENST00000686459.1:c.*493A>G	ENSP00000508909.1:n.*493A>G
ENST00000688158.1:c.*1018A>G	ENSP00000509254.1:n.*1018A>G
ENST00000688308.1:c.907A>G	ENSP00000508752.1:p.Ile303Val
ENST00000688922.1:c.828A>G
ENST00000693560.1:c.1426A>G	ENSP00000509861.1:p.Ile476Val
ENST00000371953.8:c.907A>G MANE Select	ENSP00000361021.3:p.Ile303Val
ENST00000371953.7:c.907A>G	ENSP00000361021.3:p.Ile303Val
ENST00000472832.2:c.334A>G	ENSP00000483066.1:p.Ile112Val
NM_000314.5:c.907A>G	NP_000305.3:p.Ile303Val
NM_000314.6:c.907A>G	NP_000305.3:p.Ile303Val
NM_001304717.2:c.1426A>G	NP_001291646.2:p.Ile476Val
NM_001304718.1:c.316A>G	NP_001291647.1:p.Ile106Val
XM_006717926.2:c.862A>G	XP_006717989.1:p.Ile288Val
XM_011539981.1:c.907A>G	XP_011538283.1:p.Ile303Val
XM_011539982.1:c.811A>G	XP_011538284.1:p.Ile271Val
XR_945791.1:n.1477A>G
NM_000314.7:c.907A>G	NP_000305.3:p.Ile303Val
NM_001304717.5:c.1426A>G	NP_001291646.4:p.Ile476Val
NM_001304718.2:c.316A>G	NP_001291647.1:p.Ile106Val
NM_000314.8:c.907A>G MANE Select	NP_000305.3:p.Ile303Val