Canonical Allele Identifier: CA377484939

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957942G>T , CM000672.2:g.87957942G>T	GRCh38
NC_000010.10:g.89717699G>T , CM000672.1:g.89717699G>T	GRCh37
NC_000010.9:g.89707679G>T	NCBI36
NG_007466.2:g.99504G>T , LRG_311:g.99504G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.724G>T MANE Select	NP_000305.3:p.Glu242Ter
ENST00000371953.8:c.724G>T MANE Select	ENSP00000361021.3:p.Glu242Ter
NM_000314.5:c.724G>T	NP_000305.3:p.Glu242Ter
NM_000314.6:c.724G>T	NP_000305.3:p.Glu242Ter
NM_000314.7:c.724G>T	NP_000305.3:p.Glu242Ter
NM_001304717.2:c.1243G>T	NP_001291646.2:p.Glu415Ter
NM_001304717.5:c.1243G>T	NP_001291646.4:p.Glu415Ter
NM_001304718.1:c.133G>T	NP_001291647.1:p.Glu45Ter
NM_001304718.2:c.133G>T	NP_001291647.1:p.Glu45Ter
ENST00000371953.7:c.724G>T	ENSP00000361021.3:p.Glu242Ter
ENST00000472832.2:c.151G>T	ENSP00000483066.1:p.Glu51Ter
ENST00000472832.3:c.724G>T	ENSP00000483066.2:p.Glu242Ter
ENST00000686459.1:c.*310G>T	ENSP00000508909.1:n.*310G>T
ENST00000688158.1:c.*835G>T	ENSP00000509254.1:n.*835G>T
ENST00000688158.2:n.1459G>T
ENST00000688308.1:c.724G>T	ENSP00000508752.1:p.Glu242Ter
ENST00000688922.1:c.645G>T
ENST00000688922.2:c.*554G>T	ENSP00000508742.2:n.*554G>T
ENST00000693560.1:c.1243G>T	ENSP00000509861.1:p.Glu415Ter
ENST00000700021.1:c.679G>T	ENSP00000514757.1:p.Glu227Ter
ENST00000700022.1:c.*63G>T	ENSP00000514758.1:n.*63G>T
ENST00000700023.1:n.1882G>T
ENST00000700024.1:n.2116G>T
ENST00000700025.1:n.1493G>T
ENST00000700026.1:n.361G>T
ENST00000700029.1:c.558G>T
ENST00000700029.2:c.724G>T	ENSP00000514759.2:p.Glu242Ter
ENST00000706954.1:c.724G>T	ENSP00000516674.1:p.Glu242Ter
ENST00000706955.1:c.*759G>T	ENSP00000516675.1:n.*759G>T
ENST00000710265.1:c.724G>T	ENSP00000518161.1:p.Glu242Ter
XM_006717926.2:c.679G>T	XP_006717989.1:p.Glu227Ter
XM_011539981.1:c.724G>T	XP_011538283.1:p.Glu242Ter
XM_011539982.1:c.628G>T	XP_011538284.1:p.Glu210Ter
XR_945791.1:n.1294G>T