Canonical Allele Identifier: CA338778

Gene: PTEN

Linked Data

• ClinVar Variation Id: 216420
• ClinVar RCV Id: RCV000199667 ; RCV001753602 ; RCV003298263
• dbSNP Id: rs863224665
• MyVariant Identifiers: chr10:g.89725215A>G (hg19) ; chr10:g.87965458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965458A>G , CM000672.2:g.87965458A>G	GRCh38
NC_000010.10:g.89725215A>G , CM000672.1:g.89725215A>G	GRCh37
NC_000010.9:g.89715195A>G	NCBI36
NG_007466.2:g.107020A>G , LRG_311:g.107020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1291A>G	ENSP00000514759.2:p.Ile431Val
ENST00000710265.1:c.*227A>G	ENSP00000518161.1:n.*227A>G
ENST00000688158.2:n.1933A>G
ENST00000688922.2:c.*1028A>G	ENSP00000508742.2:n.*1028A>G
ENST00000700021.1:c.1153A>G	ENSP00000514757.1:p.Ile385Val
ENST00000700022.1:c.*537A>G	ENSP00000514758.1:n.*537A>G
ENST00000700023.1:n.2356A>G
ENST00000700024.1:n.2590A>G
ENST00000706954.1:c.1198A>G	ENSP00000516674.1:p.Ile400Val
ENST00000706955.1:c.*1233A>G	ENSP00000516675.1:n.*1233A>G
ENST00000686459.1:c.*784A>G	ENSP00000508909.1:n.*784A>G
ENST00000688158.1:c.*1309A>G	ENSP00000509254.1:n.*1309A>G
ENST00000688308.1:c.1198A>G	ENSP00000508752.1:p.Ile400Val
ENST00000688922.1:c.1119A>G
ENST00000693560.1:c.1717A>G	ENSP00000509861.1:p.Ile573Val
ENST00000371953.8:c.1198A>G MANE Select	ENSP00000361021.3:p.Ile400Val
ENST00000371953.7:c.1198A>G	ENSP00000361021.3:p.Ile400Val
NM_000314.5:c.1198A>G	NP_000305.3:p.Ile400Val
NM_000314.6:c.1198A>G	NP_000305.3:p.Ile400Val
NM_001304717.2:c.1717A>G	NP_001291646.2:p.Ile573Val
NM_001304718.1:c.607A>G	NP_001291647.1:p.Ile203Val
XM_006717926.2:c.1153A>G	XP_006717989.1:p.Ile385Val
XM_011539982.1:c.1102A>G	XP_011538284.1:p.Ile368Val
XR_945791.1:n.1768A>G
NM_000314.7:c.1198A>G	NP_000305.3:p.Ile400Val
NM_001304717.5:c.1717A>G	NP_001291646.4:p.Ile573Val
NM_001304718.2:c.607A>G	NP_001291647.1:p.Ile203Val
NM_000314.8:c.1198A>G MANE Select	NP_000305.3:p.Ile400Val