Canonical Allele Identifier: CA377485823

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1765878
• ClinVar RCV Id: RCV002378707
• dbSNP Id: rs2132282627
• MyVariant Identifiers: chr10:g.89720760G>T (hg19) ; chr10:g.87961003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961003G>T , CM000672.2:g.87961003G>T	GRCh38
NC_000010.10:g.89720760G>T , CM000672.1:g.89720760G>T	GRCh37
NC_000010.9:g.89710740G>T	NCBI36
NG_007466.2:g.102565G>T , LRG_311:g.102565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1004G>T	ENSP00000514759.2:p.Cys335Phe
ENST00000710265.1:c.911G>T	ENSP00000518161.1:p.Cys304Phe
ENST00000472832.3:c.911G>T	ENSP00000483066.2:p.Cys304Phe
ENST00000688158.2:n.1646G>T
ENST00000688922.2:c.*741G>T	ENSP00000508742.2:n.*741G>T
ENST00000700021.1:c.866G>T	ENSP00000514757.1:p.Cys289Phe
ENST00000700022.1:c.*250G>T	ENSP00000514758.1:n.*250G>T
ENST00000700023.1:n.2069G>T
ENST00000700024.1:n.2303G>T
ENST00000700025.1:n.1680G>T
ENST00000700026.1:n.548G>T
ENST00000706954.1:c.911G>T	ENSP00000516674.1:p.Cys304Phe
ENST00000706955.1:c.*946G>T	ENSP00000516675.1:n.*946G>T
ENST00000686459.1:c.*497G>T	ENSP00000508909.1:n.*497G>T
ENST00000688158.1:c.*1022G>T	ENSP00000509254.1:n.*1022G>T
ENST00000688308.1:c.911G>T	ENSP00000508752.1:p.Cys304Phe
ENST00000688922.1:c.832G>T
ENST00000693560.1:c.1430G>T	ENSP00000509861.1:p.Cys477Phe
ENST00000371953.8:c.911G>T MANE Select	ENSP00000361021.3:p.Cys304Phe
ENST00000371953.7:c.911G>T	ENSP00000361021.3:p.Cys304Phe
ENST00000472832.2:c.338G>T	ENSP00000483066.1:p.Cys113Phe
NM_000314.5:c.911G>T	NP_000305.3:p.Cys304Phe
NM_000314.6:c.911G>T	NP_000305.3:p.Cys304Phe
NM_001304717.2:c.1430G>T	NP_001291646.2:p.Cys477Phe
NM_001304718.1:c.320G>T	NP_001291647.1:p.Cys107Phe
XM_006717926.2:c.866G>T	XP_006717989.1:p.Cys289Phe
XM_011539981.1:c.911G>T	XP_011538283.1:p.Cys304Phe
XM_011539982.1:c.815G>T	XP_011538284.1:p.Cys272Phe
XR_945791.1:n.1481G>T
NM_000314.7:c.911G>T	NP_000305.3:p.Cys304Phe
NM_001304717.5:c.1430G>T	NP_001291646.4:p.Cys477Phe
NM_001304718.2:c.320G>T	NP_001291647.1:p.Cys107Phe
NM_000314.8:c.911G>T MANE Select	NP_000305.3:p.Cys304Phe