Canonical Allele Identifier: CA377484860

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957906G>T , CM000672.2:g.87957906G>T	GRCh38
NC_000010.10:g.89717663G>T , CM000672.1:g.89717663G>T	GRCh37
NC_000010.9:g.89707643G>T	NCBI36
NG_007466.2:g.99468G>T , LRG_311:g.99468G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.688G>T MANE Select	NP_000305.3:p.Gly230Ter
ENST00000371953.8:c.688G>T MANE Select	ENSP00000361021.3:p.Gly230Ter
NM_000314.5:c.688G>T	NP_000305.3:p.Gly230Ter
NM_000314.6:c.688G>T	NP_000305.3:p.Gly230Ter
NM_000314.7:c.688G>T	NP_000305.3:p.Gly230Ter
NM_001304717.2:c.1207G>T	NP_001291646.2:p.Gly403Ter
NM_001304717.5:c.1207G>T	NP_001291646.4:p.Gly403Ter
NM_001304718.1:c.97G>T	NP_001291647.1:p.Gly33Ter
NM_001304718.2:c.97G>T	NP_001291647.1:p.Gly33Ter
ENST00000371953.7:c.688G>T	ENSP00000361021.3:p.Gly230Ter
ENST00000472832.2:c.115G>T	ENSP00000483066.1:p.Gly39Ter
ENST00000472832.3:c.688G>T	ENSP00000483066.2:p.Gly230Ter
ENST00000686459.1:c.*274G>T	ENSP00000508909.1:n.*274G>T
ENST00000688158.1:c.*799G>T	ENSP00000509254.1:n.*799G>T
ENST00000688158.2:n.1423G>T
ENST00000688308.1:c.688G>T	ENSP00000508752.1:p.Gly230Ter
ENST00000688922.1:c.609G>T
ENST00000688922.2:c.*518G>T	ENSP00000508742.2:n.*518G>T
ENST00000693560.1:c.1207G>T	ENSP00000509861.1:p.Gly403Ter
ENST00000700021.1:c.643G>T	ENSP00000514757.1:p.Gly215Ter
ENST00000700022.1:c.*27G>T	ENSP00000514758.1:n.*27G>T
ENST00000700023.1:n.1846G>T
ENST00000700024.1:n.2080G>T
ENST00000700025.1:n.1457G>T
ENST00000700026.1:n.325G>T
ENST00000700029.1:c.522G>T
ENST00000700029.2:c.688G>T	ENSP00000514759.2:p.Gly230Ter
ENST00000706954.1:c.688G>T	ENSP00000516674.1:p.Gly230Ter
ENST00000706955.1:c.*723G>T	ENSP00000516675.1:n.*723G>T
ENST00000710265.1:c.688G>T	ENSP00000518161.1:p.Gly230Ter
XM_006717926.2:c.643G>T	XP_006717989.1:p.Gly215Ter
XM_011539981.1:c.688G>T	XP_011538283.1:p.Gly230Ter
XM_011539982.1:c.592G>T	XP_011538284.1:p.Gly198Ter
XR_945791.1:n.1258G>T