Canonical Allele Identifier: CA377484795

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957873C>T , CM000672.2:g.87957873C>T	GRCh38
NC_000010.10:g.89717630C>T , CM000672.1:g.89717630C>T	GRCh37
NC_000010.9:g.89707610C>T	NCBI36
NG_007466.2:g.99435C>T , LRG_311:g.99435C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.655C>T MANE Select	NP_000305.3:p.Gln219Ter
ENST00000371953.8:c.655C>T MANE Select	ENSP00000361021.3:p.Gln219Ter
NM_000314.5:c.655C>T	NP_000305.3:p.Gln219Ter
NM_000314.6:c.655C>T	NP_000305.3:p.Gln219Ter
NM_000314.7:c.655C>T	NP_000305.3:p.Gln219Ter
NM_001304717.2:c.1174C>T	NP_001291646.2:p.Gln392Ter
NM_001304717.5:c.1174C>T	NP_001291646.4:p.Gln392Ter
NM_001304718.1:c.64C>T	NP_001291647.1:p.Gln22Ter
NM_001304718.2:c.64C>T	NP_001291647.1:p.Gln22Ter
ENST00000371953.7:c.655C>T	ENSP00000361021.3:p.Gln219Ter
ENST00000472832.2:c.82C>T	ENSP00000483066.1:p.Gln28Ter
ENST00000472832.3:c.655C>T	ENSP00000483066.2:p.Gln219Ter
ENST00000686459.1:c.*241C>T	ENSP00000508909.1:n.*241C>T
ENST00000688158.1:c.*766C>T	ENSP00000509254.1:n.*766C>T
ENST00000688158.2:n.1390C>T
ENST00000688308.1:c.655C>T	ENSP00000508752.1:p.Gln219Ter
ENST00000688922.1:c.576C>T
ENST00000688922.2:c.*485C>T	ENSP00000508742.2:n.*485C>T
ENST00000693560.1:c.1174C>T	ENSP00000509861.1:p.Gln392Ter
ENST00000700021.1:c.610C>T	ENSP00000514757.1:p.Gln204Ter
ENST00000700022.1:c.513C>T	ENSP00000514758.1:p.Ala171=
ENST00000700023.1:n.1813C>T
ENST00000700024.1:n.2047C>T
ENST00000700025.1:n.1424C>T
ENST00000700026.1:n.292C>T
ENST00000700029.1:c.489C>T
ENST00000700029.2:c.655C>T	ENSP00000514759.2:p.Gln219Ter
ENST00000706954.1:c.655C>T	ENSP00000516674.1:p.Gln219Ter
ENST00000706955.1:c.*690C>T	ENSP00000516675.1:n.*690C>T
ENST00000710265.1:c.655C>T	ENSP00000518161.1:p.Gln219Ter
XM_006717926.2:c.610C>T	XP_006717989.1:p.Gln204Ter
XM_011539981.1:c.655C>T	XP_011538283.1:p.Gln219Ter
XM_011539982.1:c.559C>T	XP_011538284.1:p.Gln187Ter
XR_945791.1:n.1225C>T