Canonical Allele Identifier: CA377484769

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1012022
• ClinVar RCV Id: RCV001309914
• dbSNP Id: rs1860539219
• MyVariant Identifiers: chr10:g.89717618T>G (hg19) ; chr10:g.87957861T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957861T>G , CM000672.2:g.87957861T>G	GRCh38
NC_000010.10:g.89717618T>G , CM000672.1:g.89717618T>G	GRCh37
NC_000010.9:g.89707598T>G	NCBI36
NG_007466.2:g.99423T>G , LRG_311:g.99423T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.643T>G	ENSP00000514759.2:p.Phe215Val
ENST00000710265.1:c.643T>G	ENSP00000518161.1:p.Phe215Val
ENST00000472832.3:c.643T>G	ENSP00000483066.2:p.Phe215Val
ENST00000688158.2:n.1378T>G
ENST00000688922.2:c.*473T>G	ENSP00000508742.2:n.*473T>G
ENST00000700021.1:c.598T>G	ENSP00000514757.1:p.Phe200Val
ENST00000700022.1:c.501T>G	ENSP00000514758.1:p.Ser167Arg
ENST00000700023.1:n.1801T>G
ENST00000700024.1:n.2035T>G
ENST00000700025.1:n.1412T>G
ENST00000700026.1:n.280T>G
ENST00000700029.1:c.477T>G
ENST00000706954.1:c.643T>G	ENSP00000516674.1:p.Phe215Val
ENST00000706955.1:c.*678T>G	ENSP00000516675.1:n.*678T>G
ENST00000686459.1:c.*229T>G	ENSP00000508909.1:n.*229T>G
ENST00000688158.1:c.*754T>G	ENSP00000509254.1:n.*754T>G
ENST00000688308.1:c.643T>G	ENSP00000508752.1:p.Phe215Val
ENST00000688922.1:c.564T>G
ENST00000693560.1:c.1162T>G	ENSP00000509861.1:p.Phe388Val
ENST00000371953.8:c.643T>G MANE Select	ENSP00000361021.3:p.Phe215Val
ENST00000371953.7:c.643T>G	ENSP00000361021.3:p.Phe215Val
ENST00000472832.2:c.70T>G	ENSP00000483066.1:p.Phe24Val
NM_000314.5:c.643T>G	NP_000305.3:p.Phe215Val
NM_000314.6:c.643T>G	NP_000305.3:p.Phe215Val
NM_001304717.2:c.1162T>G	NP_001291646.2:p.Phe388Val
NM_001304718.1:c.52T>G	NP_001291647.1:p.Phe18Val
XM_006717926.2:c.598T>G	XP_006717989.1:p.Phe200Val
XM_011539981.1:c.643T>G	XP_011538283.1:p.Phe215Val
XM_011539982.1:c.547T>G	XP_011538284.1:p.Phe183Val
XR_945791.1:n.1213T>G
NM_000314.7:c.643T>G	NP_000305.3:p.Phe215Val
NM_001304717.5:c.1162T>G	NP_001291646.4:p.Phe388Val
NM_001304718.2:c.52T>G	NP_001291647.1:p.Phe18Val
NM_000314.8:c.643T>G MANE Select	NP_000305.3:p.Phe215Val