Canonical Allele Identifier: CA377485733

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960980T>A , CM000672.2:g.87960980T>A	GRCh38
NC_000010.10:g.89720737T>A , CM000672.1:g.89720737T>A	GRCh37
NC_000010.9:g.89710717T>A	NCBI36
NG_007466.2:g.102542T>A , LRG_311:g.102542T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.888T>A MANE Select	NP_000305.3:p.Cys296Ter
ENST00000371953.8:c.888T>A MANE Select	ENSP00000361021.3:p.Cys296Ter
NM_000314.5:c.888T>A	NP_000305.3:p.Cys296Ter
NM_000314.6:c.888T>A	NP_000305.3:p.Cys296Ter
NM_000314.7:c.888T>A	NP_000305.3:p.Cys296Ter
NM_001304717.2:c.1407T>A	NP_001291646.2:p.Cys469Ter
NM_001304717.5:c.1407T>A	NP_001291646.4:p.Cys469Ter
NM_001304718.1:c.297T>A	NP_001291647.1:p.Cys99Ter
NM_001304718.2:c.297T>A	NP_001291647.1:p.Cys99Ter
ENST00000371953.7:c.888T>A	ENSP00000361021.3:p.Cys296Ter
ENST00000472832.2:c.315T>A	ENSP00000483066.1:p.Cys105Ter
ENST00000472832.3:c.888T>A	ENSP00000483066.2:p.Cys296Ter
ENST00000686459.1:c.*474T>A	ENSP00000508909.1:n.*474T>A
ENST00000688158.1:c.*999T>A	ENSP00000509254.1:n.*999T>A
ENST00000688158.2:n.1623T>A
ENST00000688308.1:c.888T>A	ENSP00000508752.1:p.Cys296Ter
ENST00000688922.1:c.809T>A
ENST00000688922.2:c.*718T>A	ENSP00000508742.2:n.*718T>A
ENST00000693560.1:c.1407T>A	ENSP00000509861.1:p.Cys469Ter
ENST00000700021.1:c.843T>A	ENSP00000514757.1:p.Cys281Ter
ENST00000700022.1:c.*227T>A	ENSP00000514758.1:n.*227T>A
ENST00000700023.1:n.2046T>A
ENST00000700024.1:n.2280T>A
ENST00000700025.1:n.1657T>A
ENST00000700026.1:n.525T>A
ENST00000700029.2:c.981T>A	ENSP00000514759.2:p.Cys327Ter
ENST00000706954.1:c.888T>A	ENSP00000516674.1:p.Cys296Ter
ENST00000706955.1:c.*923T>A	ENSP00000516675.1:n.*923T>A
ENST00000710265.1:c.888T>A	ENSP00000518161.1:p.Cys296Ter
XM_006717926.2:c.843T>A	XP_006717989.1:p.Cys281Ter
XM_011539981.1:c.888T>A	XP_011538283.1:p.Cys296Ter
XM_011539982.1:c.792T>A	XP_011538284.1:p.Cys264Ter
XR_945791.1:n.1458T>A