Canonical Allele Identifier: CA377485416

Gene: PTEN

Linked Data

• dbSNP Id: rs2132281696
• gnomAD v3: 10-87960895-A-T
• gnomAD v4: 10-87960895-A-T
• MyVariant Identifiers: chr10:g.89720652A>T (hg19) ; chr10:g.87960895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960895A>T , CM000672.2:g.87960895A>T	GRCh38
NC_000010.10:g.89720652A>T , CM000672.1:g.89720652A>T	GRCh37
NC_000010.9:g.89710632A>T	NCBI36
NG_007466.2:g.102457A>T , LRG_311:g.102457A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.896A>T	ENSP00000514759.2:p.Asp299Val
ENST00000710265.1:c.803A>T	ENSP00000518161.1:p.Asp268Val
ENST00000472832.3:c.803A>T	ENSP00000483066.2:p.Asp268Val
ENST00000688158.2:n.1538A>T
ENST00000688922.2:c.*633A>T	ENSP00000508742.2:n.*633A>T
ENST00000700021.1:c.758A>T	ENSP00000514757.1:p.Asp253Val
ENST00000700022.1:c.*142A>T	ENSP00000514758.1:n.*142A>T
ENST00000700023.1:n.1961A>T
ENST00000700024.1:n.2195A>T
ENST00000700025.1:n.1572A>T
ENST00000700026.1:n.440A>T
ENST00000700029.1:c.730A>T
ENST00000706954.1:c.803A>T	ENSP00000516674.1:p.Asp268Val
ENST00000706955.1:c.*838A>T	ENSP00000516675.1:n.*838A>T
ENST00000686459.1:c.*389A>T	ENSP00000508909.1:n.*389A>T
ENST00000688158.1:c.*914A>T	ENSP00000509254.1:n.*914A>T
ENST00000688308.1:c.803A>T	ENSP00000508752.1:p.Asp268Val
ENST00000688922.1:c.724A>T
ENST00000693560.1:c.1322A>T	ENSP00000509861.1:p.Asp441Val
ENST00000371953.8:c.803A>T MANE Select	ENSP00000361021.3:p.Asp268Val
ENST00000371953.7:c.803A>T	ENSP00000361021.3:p.Asp268Val
ENST00000472832.2:c.230A>T	ENSP00000483066.1:p.Asp77Val
NM_000314.5:c.803A>T	NP_000305.3:p.Asp268Val
NM_000314.6:c.803A>T	NP_000305.3:p.Asp268Val
NM_001304717.2:c.1322A>T	NP_001291646.2:p.Asp441Val
NM_001304718.1:c.212A>T	NP_001291647.1:p.Asp71Val
XM_006717926.2:c.758A>T	XP_006717989.1:p.Asp253Val
XM_011539981.1:c.803A>T	XP_011538283.1:p.Asp268Val
XM_011539982.1:c.707A>T	XP_011538284.1:p.Asp236Val
XR_945791.1:n.1373A>T
NM_000314.7:c.803A>T	NP_000305.3:p.Asp268Val
NM_001304717.5:c.1322A>T	NP_001291646.4:p.Asp441Val
NM_001304718.2:c.212A>T	NP_001291647.1:p.Asp71Val
NM_000314.8:c.803A>T MANE Select	NP_000305.3:p.Asp268Val