Canonical Allele Identifier: CA060394

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957899C>T , CM000672.2:g.87957899C>T	GRCh38
NC_000010.10:g.89717656C>T , CM000672.1:g.89717656C>T	GRCh37
NC_000010.9:g.89707636C>T	NCBI36
NG_007466.2:g.99461C>T , LRG_311:g.99461C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.681C>T MANE Select	NP_000305.3:p.Ser227=
ENST00000371953.8:c.681C>T MANE Select	ENSP00000361021.3:p.Ser227=
NM_000314.5:c.681C>T	NP_000305.3:p.Ser227=
NM_000314.6:c.681C>T	NP_000305.3:p.Ser227=
NM_000314.7:c.681C>T	NP_000305.3:p.Ser227=
NM_001304717.2:c.1200C>T	NP_001291646.2:p.Ser400=
NM_001304717.5:c.1200C>T	NP_001291646.4:p.Ser400=
NM_001304718.1:c.90C>T	NP_001291647.1:p.Ser30=
NM_001304718.2:c.90C>T	NP_001291647.1:p.Ser30=
ENST00000371953.7:c.681C>T	ENSP00000361021.3:p.Ser227=
ENST00000472832.2:c.108C>T	ENSP00000483066.1:p.Ser36=
ENST00000472832.3:c.681C>T	ENSP00000483066.2:p.Ser227=
ENST00000686459.1:c.*267C>T	ENSP00000508909.1:n.*267C>T
ENST00000688158.1:c.*792C>T	ENSP00000509254.1:n.*792C>T
ENST00000688158.2:n.1416C>T
ENST00000688308.1:c.681C>T	ENSP00000508752.1:p.Ser227=
ENST00000688922.1:c.602C>T
ENST00000688922.2:c.*511C>T	ENSP00000508742.2:n.*511C>T
ENST00000693560.1:c.1200C>T	ENSP00000509861.1:p.Ser400=
ENST00000700021.1:c.636C>T	ENSP00000514757.1:p.Ser212=
ENST00000700022.1:c.*20C>T	ENSP00000514758.1:n.*20C>T
ENST00000700023.1:n.1839C>T
ENST00000700024.1:n.2073C>T
ENST00000700025.1:n.1450C>T
ENST00000700026.1:n.318C>T
ENST00000700029.1:c.515C>T
ENST00000700029.2:c.681C>T	ENSP00000514759.2:p.Ser227=
ENST00000706954.1:c.681C>T	ENSP00000516674.1:p.Ser227=
ENST00000706955.1:c.*716C>T	ENSP00000516675.1:n.*716C>T
ENST00000710265.1:c.681C>T	ENSP00000518161.1:p.Ser227=
XM_006717926.2:c.636C>T	XP_006717989.1:p.Ser212=
XM_011539981.1:c.681C>T	XP_011538283.1:p.Ser227=
XM_011539982.1:c.585C>T	XP_011538284.1:p.Ser195=
XR_945791.1:n.1251C>T