Canonical Allele Identifier: CA377482222

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933099G>T , CM000672.2:g.87933099G>T	GRCh38
NC_000010.10:g.89692856G>T , CM000672.1:g.89692856G>T	GRCh37
NC_000010.9:g.89682836G>T	NCBI36
NG_007466.2:g.74661G>T , LRG_311:g.74661G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.340G>T MANE Select	NP_000305.3:p.Glu114Ter
ENST00000371953.8:c.340G>T MANE Select	ENSP00000361021.3:p.Glu114Ter
NM_000314.5:c.340G>T	NP_000305.3:p.Glu114Ter
NM_000314.6:c.340G>T	NP_000305.3:p.Glu114Ter
NM_000314.7:c.340G>T	NP_000305.3:p.Glu114Ter
NM_001304717.2:c.859G>T	NP_001291646.2:p.Glu287Ter
NM_001304717.5:c.859G>T	NP_001291646.4:p.Glu287Ter
NM_001304718.1:c.-411G>T	NP_001291647.1:n.-411G>T
NM_001304718.2:c.-411G>T	NP_001291647.1:n.-411G>T
ENST00000371953.7:c.340G>T	ENSP00000361021.3:p.Glu114Ter
ENST00000472832.3:c.340G>T	ENSP00000483066.2:p.Glu114Ter
ENST00000498703.1:n.166G>T
ENST00000610634.1:c.238G>T	ENSP00000477517.1:p.Glu80Ter
ENST00000686459.1:c.340G>T	ENSP00000508909.1:p.Glu114Ter
ENST00000688158.1:c.*451G>T	ENSP00000509254.1:n.*451G>T
ENST00000688158.2:n.1075G>T
ENST00000688308.1:c.340G>T	ENSP00000508752.1:p.Glu114Ter
ENST00000688922.1:c.261G>T
ENST00000688922.2:c.*170G>T	ENSP00000508742.2:n.*170G>T
ENST00000693560.1:c.859G>T	ENSP00000509861.1:p.Glu287Ter
ENST00000700021.1:c.295G>T	ENSP00000514757.1:p.Glu99Ter
ENST00000700022.1:c.340G>T	ENSP00000514758.1:p.Glu114Ter
ENST00000700029.1:c.174G>T
ENST00000700029.2:c.340G>T	ENSP00000514759.2:p.Glu114Ter
ENST00000706954.1:c.340G>T	ENSP00000516674.1:p.Glu114Ter
ENST00000706955.1:c.*375G>T	ENSP00000516675.1:n.*375G>T
ENST00000710265.1:c.340G>T	ENSP00000518161.1:p.Glu114Ter
XM_006717926.2:c.295G>T	XP_006717989.1:p.Glu99Ter
XM_011539981.1:c.340G>T	XP_011538283.1:p.Glu114Ter
XM_011539982.1:c.244G>T	XP_011538284.1:p.Glu82Ter
XR_945789.1:n.1052G>T
XR_945790.1:n.1052G>T
XR_945791.1:n.1052G>T