Canonical Allele Identifier: CA1926188513

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957877T= , CM000672.2:g.87957877T=	GRCh38
NC_000010.10:g.89717634T= , CM000672.1:g.89717634T=	GRCh37
NC_000010.9:g.89707614T=	NCBI36
NG_007466.2:g.99439T= , LRG_311:g.99439T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.659T=	ENSP00000514759.2:p.Leu220=
ENST00000710265.1:c.659T=	ENSP00000518161.1:p.Leu220=
ENST00000472832.3:c.659T=	ENSP00000483066.2:p.Leu220=
ENST00000688158.2:n.1394T=
ENST00000688922.2:c.*489T=	ENSP00000508742.2:n.*489T=
ENST00000700021.1:c.614T=	ENSP00000514757.1:p.Leu205=
ENST00000700022.1:c.517T=	ENSP00000514758.1:p.Ter173=
ENST00000700023.1:n.1817T=
ENST00000700024.1:n.2051T=
ENST00000700025.1:n.1428T=
ENST00000700026.1:n.296T=
ENST00000700029.1:c.493T=
ENST00000706954.1:c.659T=	ENSP00000516674.1:p.Leu220=
ENST00000706955.1:c.*694T=	ENSP00000516675.1:n.*694T=
ENST00000686459.1:c.*245T=	ENSP00000508909.1:n.*245T=
ENST00000688158.1:c.*770T=	ENSP00000509254.1:n.*770T=
ENST00000688308.1:c.659T=	ENSP00000508752.1:p.Leu220=
ENST00000688922.1:c.580T=
ENST00000693560.1:c.1178T=	ENSP00000509861.1:p.Leu393=
ENST00000371953.8:c.659T= MANE Select	ENSP00000361021.3:p.Leu220=
ENST00000371953.7:c.659T=	ENSP00000361021.3:p.Leu220=
ENST00000472832.2:c.86T=	ENSP00000483066.1:p.Leu29=
NM_000314.5:c.659T=	NP_000305.3:p.Leu220=
NM_000314.6:c.659T=	NP_000305.3:p.Leu220=
NM_001304717.2:c.1178T=	NP_001291646.2:p.Leu393=
NM_001304718.1:c.68T=	NP_001291647.1:p.Leu23=
XM_006717926.2:c.614T=	XP_006717989.1:p.Leu205=
XM_011539981.1:c.659T=	XP_011538283.1:p.Leu220=
XM_011539982.1:c.563T=	XP_011538284.1:p.Leu188=
XR_945791.1:n.1229T=
NM_000314.7:c.659T=	NP_000305.3:p.Leu220=
NM_001304717.5:c.1178T=	NP_001291646.4:p.Leu393=
NM_001304718.2:c.68T=	NP_001291647.1:p.Leu23=
NM_000314.8:c.659T= MANE Select	NP_000305.3:p.Leu220=