Canonical Allele Identifier: CA377487459

Gene: PTEN

Linked Data

• ClinVar Variation Id: 818548
• ClinVar RCV Id: RCV001010238 ; RCV001052404
• dbSNP Id: rs876661021
• MyVariant Identifiers: chr10:g.89725207A>T (hg19) ; chr10:g.87965450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965450A>T , CM000672.2:g.87965450A>T	GRCh38
NC_000010.10:g.89725207A>T , CM000672.1:g.89725207A>T	GRCh37
NC_000010.9:g.89715187A>T	NCBI36
NG_007466.2:g.107012A>T , LRG_311:g.107012A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1283A>T	ENSP00000514759.2:p.His428Leu
ENST00000710265.1:c.*219A>T	ENSP00000518161.1:n.*219A>T
ENST00000688158.2:n.1925A>T
ENST00000688922.2:c.*1020A>T	ENSP00000508742.2:n.*1020A>T
ENST00000700021.1:c.1145A>T	ENSP00000514757.1:p.His382Leu
ENST00000700022.1:c.*529A>T	ENSP00000514758.1:n.*529A>T
ENST00000700023.1:n.2348A>T
ENST00000700024.1:n.2582A>T
ENST00000706954.1:c.1190A>T	ENSP00000516674.1:p.His397Leu
ENST00000706955.1:c.*1225A>T	ENSP00000516675.1:n.*1225A>T
ENST00000686459.1:c.*776A>T	ENSP00000508909.1:n.*776A>T
ENST00000688158.1:c.*1301A>T	ENSP00000509254.1:n.*1301A>T
ENST00000688308.1:c.1190A>T	ENSP00000508752.1:p.His397Leu
ENST00000688922.1:c.1111A>T
ENST00000693560.1:c.1709A>T	ENSP00000509861.1:p.His570Leu
ENST00000371953.8:c.1190A>T MANE Select	ENSP00000361021.3:p.His397Leu
ENST00000371953.7:c.1190A>T	ENSP00000361021.3:p.His397Leu
NM_000314.5:c.1190A>T	NP_000305.3:p.His397Leu
NM_000314.6:c.1190A>T	NP_000305.3:p.His397Leu
NM_001304717.2:c.1709A>T	NP_001291646.2:p.His570Leu
NM_001304718.1:c.599A>T	NP_001291647.1:p.His200Leu
XM_006717926.2:c.1145A>T	XP_006717989.1:p.His382Leu
XM_011539982.1:c.1094A>T	XP_011538284.1:p.His365Leu
XR_945791.1:n.1760A>T
NM_000314.7:c.1190A>T	NP_000305.3:p.His397Leu
NM_001304717.5:c.1709A>T	NP_001291646.4:p.His570Leu
NM_001304718.2:c.599A>T	NP_001291647.1:p.His200Leu
NM_000314.8:c.1190A>T MANE Select	NP_000305.3:p.His397Leu