Canonical Allele Identifier: CA377487123

Gene: PTEN

Linked Data

• MyVariant Identifiers: chr10:g.89725057T>G (hg19) ; chr10:g.87965300T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965300T>G , CM000672.2:g.87965300T>G	GRCh38
NC_000010.10:g.89725057T>G , CM000672.1:g.89725057T>G	GRCh37
NC_000010.9:g.89715037T>G	NCBI36
NG_007466.2:g.106862T>G , LRG_311:g.106862T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1133T>G	ENSP00000514759.2:p.Phe378Cys
ENST00000710265.1:c.*69T>G	ENSP00000518161.1:n.*69T>G
ENST00000688158.2:n.1775T>G
ENST00000688922.2:c.*870T>G	ENSP00000508742.2:n.*870T>G
ENST00000700021.1:c.995T>G	ENSP00000514757.1:p.Phe332Cys
ENST00000700022.1:c.*379T>G	ENSP00000514758.1:n.*379T>G
ENST00000700023.1:n.2198T>G
ENST00000700024.1:n.2432T>G
ENST00000706954.1:c.1040T>G	ENSP00000516674.1:p.Phe347Cys
ENST00000706955.1:c.*1075T>G	ENSP00000516675.1:n.*1075T>G
ENST00000686459.1:c.*626T>G	ENSP00000508909.1:n.*626T>G
ENST00000688158.1:c.*1151T>G	ENSP00000509254.1:n.*1151T>G
ENST00000688308.1:c.1040T>G	ENSP00000508752.1:p.Phe347Cys
ENST00000688922.1:c.961T>G
ENST00000693560.1:c.1559T>G	ENSP00000509861.1:p.Phe520Cys
ENST00000371953.8:c.1040T>G MANE Select	ENSP00000361021.3:p.Phe347Cys
ENST00000371953.7:c.1040T>G	ENSP00000361021.3:p.Phe347Cys
NM_000314.5:c.1040T>G	NP_000305.3:p.Phe347Cys
NM_000314.6:c.1040T>G	NP_000305.3:p.Phe347Cys
NM_001304717.2:c.1559T>G	NP_001291646.2:p.Phe520Cys
NM_001304718.1:c.449T>G	NP_001291647.1:p.Phe150Cys
XM_006717926.2:c.995T>G	XP_006717989.1:p.Phe332Cys
XM_011539982.1:c.944T>G	XP_011538284.1:p.Phe315Cys
XR_945791.1:n.1610T>G
NM_000314.7:c.1040T>G	NP_000305.3:p.Phe347Cys
NM_001304717.5:c.1559T>G	NP_001291646.4:p.Phe520Cys
NM_001304718.2:c.449T>G	NP_001291647.1:p.Phe150Cys
NM_000314.8:c.1040T>G MANE Select	NP_000305.3:p.Phe347Cys