Canonical Allele Identifier: CA377487152

Gene: PTEN

Linked Data

• dbSNP Id: rs1554826034
• COSMIC: COSM5297
• MyVariant Identifiers: chr10:g.89725071G>T (hg19) ; chr10:g.87965314G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965314G>T , CM000672.2:g.87965314G>T	GRCh38
NC_000010.10:g.89725071G>T , CM000672.1:g.89725071G>T	GRCh37
NC_000010.9:g.89715051G>T	NCBI36
NG_007466.2:g.106876G>T , LRG_311:g.106876G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1147G>T	ENSP00000514759.2:p.Glu383Ter
ENST00000710265.1:c.*83G>T	ENSP00000518161.1:n.*83G>T
ENST00000688158.2:n.1789G>T
ENST00000688922.2:c.*884G>T	ENSP00000508742.2:n.*884G>T
ENST00000700021.1:c.1009G>T	ENSP00000514757.1:p.Glu337Ter
ENST00000700022.1:c.*393G>T	ENSP00000514758.1:n.*393G>T
ENST00000700023.1:n.2212G>T
ENST00000700024.1:n.2446G>T
ENST00000706954.1:c.1054G>T	ENSP00000516674.1:p.Glu352Ter
ENST00000706955.1:c.*1089G>T	ENSP00000516675.1:n.*1089G>T
ENST00000686459.1:c.*640G>T	ENSP00000508909.1:n.*640G>T
ENST00000688158.1:c.*1165G>T	ENSP00000509254.1:n.*1165G>T
ENST00000688308.1:c.1054G>T	ENSP00000508752.1:p.Glu352Ter
ENST00000688922.1:c.975G>T
ENST00000693560.1:c.1573G>T	ENSP00000509861.1:p.Glu525Ter
ENST00000371953.8:c.1054G>T MANE Select	ENSP00000361021.3:p.Glu352Ter
ENST00000371953.7:c.1054G>T	ENSP00000361021.3:p.Glu352Ter
NM_000314.5:c.1054G>T	NP_000305.3:p.Glu352Ter
NM_000314.6:c.1054G>T	NP_000305.3:p.Glu352Ter
NM_001304717.2:c.1573G>T	NP_001291646.2:p.Glu525Ter
NM_001304718.1:c.463G>T	NP_001291647.1:p.Glu155Ter
XM_006717926.2:c.1009G>T	XP_006717989.1:p.Glu337Ter
XM_011539982.1:c.958G>T	XP_011538284.1:p.Glu320Ter
XR_945791.1:n.1624G>T
NM_000314.7:c.1054G>T	NP_000305.3:p.Glu352Ter
NM_001304717.5:c.1573G>T	NP_001291646.4:p.Glu525Ter
NM_001304718.2:c.463G>T	NP_001291647.1:p.Glu155Ter
NM_000314.8:c.1054G>T MANE Select	NP_000305.3:p.Glu352Ter