Canonical Allele Identifier: CA377484240

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952124A>G , CM000672.2:g.87952124A>G	GRCh38
NC_000010.10:g.89711881A>G , CM000672.1:g.89711881A>G	GRCh37
NC_000010.9:g.89701861A>G	NCBI36
NG_007466.2:g.93686A>G , LRG_311:g.93686A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.499A>G MANE Select	NP_000305.3:p.Thr167Ala
ENST00000371953.8:c.499A>G MANE Select	ENSP00000361021.3:p.Thr167Ala
NM_000314.5:c.499A>G	NP_000305.3:p.Thr167Ala
NM_000314.6:c.499A>G	NP_000305.3:p.Thr167Ala
NM_000314.7:c.499A>G	NP_000305.3:p.Thr167Ala
NM_001304717.2:c.1018A>G	NP_001291646.2:p.Thr340Ala
NM_001304717.5:c.1018A>G	NP_001291646.4:p.Thr340Ala
NM_001304718.1:c.-93A>G	NP_001291647.1:n.-93A>G
NM_001304718.2:c.-93A>G	NP_001291647.1:n.-93A>G
ENST00000371953.7:c.499A>G	ENSP00000361021.3:p.Thr167Ala
ENST00000472832.3:c.499A>G	ENSP00000483066.2:p.Thr167Ala
ENST00000686459.1:c.*85A>G	ENSP00000508909.1:n.*85A>G
ENST00000688158.1:c.*610A>G	ENSP00000509254.1:n.*610A>G
ENST00000688158.2:n.1234A>G
ENST00000688308.1:c.499A>G	ENSP00000508752.1:p.Thr167Ala
ENST00000688922.1:c.420A>G
ENST00000688922.2:c.*329A>G	ENSP00000508742.2:n.*329A>G
ENST00000693560.1:c.1018A>G	ENSP00000509861.1:p.Thr340Ala
ENST00000700021.1:c.454A>G	ENSP00000514757.1:p.Thr152Ala
ENST00000700022.1:c.493-5729A>G	ENSP00000514758.1:n.493-5729A>G
ENST00000700023.1:n.1657A>G
ENST00000700024.1:n.1891A>G
ENST00000700025.1:n.1268A>G
ENST00000700029.1:c.333A>G
ENST00000700029.2:c.499A>G	ENSP00000514759.2:p.Thr167Ala
ENST00000706954.1:c.499A>G	ENSP00000516674.1:p.Thr167Ala
ENST00000706955.1:c.*534A>G	ENSP00000516675.1:n.*534A>G
ENST00000710265.1:c.499A>G	ENSP00000518161.1:p.Thr167Ala
XM_006717926.2:c.454A>G	XP_006717989.1:p.Thr152Ala
XM_011539981.1:c.499A>G	XP_011538283.1:p.Thr167Ala
XM_011539982.1:c.403A>G	XP_011538284.1:p.Thr135Ala
XR_945789.1:n.1370A>G
XR_945790.1:n.1487A>G
XR_945791.1:n.1205-5729A>G