Canonical Allele Identifier: CA377487120

Gene: PTEN

Linked Data

• dbSNP Id: rs2132289241
• MyVariant Identifiers: chr10:g.89725056T>A (hg19) ; chr10:g.87965299T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965299T>A , CM000672.2:g.87965299T>A	GRCh38
NC_000010.10:g.89725056T>A , CM000672.1:g.89725056T>A	GRCh37
NC_000010.9:g.89715036T>A	NCBI36
NG_007466.2:g.106861T>A , LRG_311:g.106861T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1132T>A	ENSP00000514759.2:p.Phe378Ile
ENST00000710265.1:c.*68T>A	ENSP00000518161.1:n.*68T>A
ENST00000688158.2:n.1774T>A
ENST00000688922.2:c.*869T>A	ENSP00000508742.2:n.*869T>A
ENST00000700021.1:c.994T>A	ENSP00000514757.1:p.Phe332Ile
ENST00000700022.1:c.*378T>A	ENSP00000514758.1:n.*378T>A
ENST00000700023.1:n.2197T>A
ENST00000700024.1:n.2431T>A
ENST00000706954.1:c.1039T>A	ENSP00000516674.1:p.Phe347Ile
ENST00000706955.1:c.*1074T>A	ENSP00000516675.1:n.*1074T>A
ENST00000686459.1:c.*625T>A	ENSP00000508909.1:n.*625T>A
ENST00000688158.1:c.*1150T>A	ENSP00000509254.1:n.*1150T>A
ENST00000688308.1:c.1039T>A	ENSP00000508752.1:p.Phe347Ile
ENST00000688922.1:c.960T>A
ENST00000693560.1:c.1558T>A	ENSP00000509861.1:p.Phe520Ile
ENST00000371953.8:c.1039T>A MANE Select	ENSP00000361021.3:p.Phe347Ile
ENST00000371953.7:c.1039T>A	ENSP00000361021.3:p.Phe347Ile
NM_000314.5:c.1039T>A	NP_000305.3:p.Phe347Ile
NM_000314.6:c.1039T>A	NP_000305.3:p.Phe347Ile
NM_001304717.2:c.1558T>A	NP_001291646.2:p.Phe520Ile
NM_001304718.1:c.448T>A	NP_001291647.1:p.Phe150Ile
XM_006717926.2:c.994T>A	XP_006717989.1:p.Phe332Ile
XM_011539982.1:c.943T>A	XP_011538284.1:p.Phe315Ile
XR_945791.1:n.1609T>A
NM_000314.7:c.1039T>A	NP_000305.3:p.Phe347Ile
NM_001304717.5:c.1558T>A	NP_001291646.4:p.Phe520Ile
NM_001304718.2:c.448T>A	NP_001291647.1:p.Phe150Ile
NM_000314.8:c.1039T>A MANE Select	NP_000305.3:p.Phe347Ile