Canonical Allele Identifier: CA1926175604

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933175T= , CM000672.2:g.87933175T=	GRCh38
NC_000010.10:g.89692932T= , CM000672.1:g.89692932T=	GRCh37
NC_000010.9:g.89682912T=	NCBI36
NG_007466.2:g.74737T= , LRG_311:g.74737T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.416T= MANE Select	NP_000305.3:p.Leu139=
ENST00000371953.8:c.416T= MANE Select	ENSP00000361021.3:p.Leu139=
NM_000314.5:c.416T=	NP_000305.3:p.Leu139=
NM_000314.6:c.416T=	NP_000305.3:p.Leu139=
NM_000314.7:c.416T=	NP_000305.3:p.Leu139=
NM_001304717.2:c.935T=	NP_001291646.2:p.Leu312=
NM_001304717.5:c.935T=	NP_001291646.4:p.Leu312=
NM_001304718.1:c.-335T=	NP_001291647.1:n.-335T=
NM_001304718.2:c.-335T=	NP_001291647.1:n.-335T=
ENST00000371953.7:c.416T=	ENSP00000361021.3:p.Leu139=
ENST00000472832.3:c.416T=	ENSP00000483066.2:p.Leu139=
ENST00000498703.1:n.242T=
ENST00000610634.1:c.314T=	ENSP00000477517.1:p.Leu105=
ENST00000686459.1:c.416T=	ENSP00000508909.1:p.Leu139=
ENST00000688158.1:c.*527T=	ENSP00000509254.1:n.*527T=
ENST00000688158.2:n.1151T=
ENST00000688308.1:c.416T=	ENSP00000508752.1:p.Leu139=
ENST00000688922.1:c.337T=
ENST00000688922.2:c.*246T=	ENSP00000508742.2:n.*246T=
ENST00000693560.1:c.935T=	ENSP00000509861.1:p.Leu312=
ENST00000700021.1:c.371T=	ENSP00000514757.1:p.Leu124=
ENST00000700022.1:c.416T=	ENSP00000514758.1:p.Leu139=
ENST00000700029.1:c.250T=
ENST00000700029.2:c.416T=	ENSP00000514759.2:p.Leu139=
ENST00000706954.1:c.416T=	ENSP00000516674.1:p.Leu139=
ENST00000706955.1:c.*451T=	ENSP00000516675.1:n.*451T=
ENST00000710265.1:c.416T=	ENSP00000518161.1:p.Leu139=
XM_006717926.2:c.371T=	XP_006717989.1:p.Leu124=
XM_011539981.1:c.416T=	XP_011538283.1:p.Leu139=
XM_011539982.1:c.320T=	XP_011538284.1:p.Leu107=
XR_945789.1:n.1128T=
XR_945790.1:n.1128T=
XR_945791.1:n.1128T=