Canonical Allele Identifier: CA377481406

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87931086A>T , CM000672.2:g.87931086A>T	GRCh38
NC_000010.10:g.89690843A>T , CM000672.1:g.89690843A>T	GRCh37
NC_000010.9:g.89680823A>T	NCBI36
NG_007466.2:g.72648A>T , LRG_311:g.72648A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.250A>T MANE Select	NP_000305.3:p.Arg84Ter
ENST00000371953.8:c.250A>T MANE Select	ENSP00000361021.3:p.Arg84Ter
NM_000314.5:c.250A>T	NP_000305.3:p.Arg84Ter
NM_000314.6:c.250A>T	NP_000305.3:p.Arg84Ter
NM_000314.7:c.250A>T	NP_000305.3:p.Arg84Ter
NM_001304717.2:c.769A>T	NP_001291646.2:p.Arg257Ter
NM_001304717.5:c.769A>T	NP_001291646.4:p.Arg257Ter
NM_001304718.1:c.-501A>T	NP_001291647.1:n.-501A>T
NM_001304718.2:c.-501A>T	NP_001291647.1:n.-501A>T
ENST00000371953.7:c.250A>T	ENSP00000361021.3:p.Arg84Ter
ENST00000472832.3:c.250A>T	ENSP00000483066.2:p.Arg84Ter
ENST00000498703.1:n.76A>T
ENST00000610634.1:c.148A>T	ENSP00000477517.1:p.Arg50Ter
ENST00000686459.1:c.250A>T	ENSP00000508909.1:p.Arg84Ter
ENST00000688158.1:c.*361A>T	ENSP00000509254.1:n.*361A>T
ENST00000688158.2:n.985A>T
ENST00000688308.1:c.250A>T	ENSP00000508752.1:p.Arg84Ter
ENST00000688922.1:c.171A>T
ENST00000688922.2:c.*80A>T	ENSP00000508742.2:n.*80A>T
ENST00000693560.1:c.769A>T	ENSP00000509861.1:p.Arg257Ter
ENST00000700021.1:c.205A>T	ENSP00000514757.1:p.Arg69Ter
ENST00000700022.1:c.250A>T	ENSP00000514758.1:p.Arg84Ter
ENST00000700029.1:c.84A>T
ENST00000700029.2:c.250A>T	ENSP00000514759.2:p.Arg84Ter
ENST00000706954.1:c.250A>T	ENSP00000516674.1:p.Arg84Ter
ENST00000706955.1:c.*285A>T	ENSP00000516675.1:n.*285A>T
ENST00000710265.1:c.250A>T	ENSP00000518161.1:p.Arg84Ter
XM_006717926.2:c.205A>T	XP_006717989.1:p.Arg69Ter
XM_011539981.1:c.250A>T	XP_011538283.1:p.Arg84Ter
XM_011539982.1:c.154A>T	XP_011538284.1:p.Arg52Ter
XR_945789.1:n.962A>T
XR_945790.1:n.962A>T
XR_945791.1:n.962A>T