Canonical Allele Identifier: CA377484274

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952134G>A , CM000672.2:g.87952134G>A	GRCh38
NC_000010.10:g.89711891G>A , CM000672.1:g.89711891G>A	GRCh37
NC_000010.9:g.89701871G>A	NCBI36
NG_007466.2:g.93696G>A , LRG_311:g.93696G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.509G>A MANE Select	NP_000305.3:p.Ser170Asn
ENST00000371953.8:c.509G>A MANE Select	ENSP00000361021.3:p.Ser170Asn
NM_000314.5:c.509G>A	NP_000305.3:p.Ser170Asn
NM_000314.6:c.509G>A	NP_000305.3:p.Ser170Asn
NM_000314.7:c.509G>A	NP_000305.3:p.Ser170Asn
NM_001304717.2:c.1028G>A	NP_001291646.2:p.Ser343Asn
NM_001304717.5:c.1028G>A	NP_001291646.4:p.Ser343Asn
NM_001304718.1:c.-83G>A	NP_001291647.1:n.-83G>A
NM_001304718.2:c.-83G>A	NP_001291647.1:n.-83G>A
ENST00000371953.7:c.509G>A	ENSP00000361021.3:p.Ser170Asn
ENST00000472832.3:c.509G>A	ENSP00000483066.2:p.Ser170Asn
ENST00000686459.1:c.*95G>A	ENSP00000508909.1:n.*95G>A
ENST00000688158.1:c.*620G>A	ENSP00000509254.1:n.*620G>A
ENST00000688158.2:n.1244G>A
ENST00000688308.1:c.509G>A	ENSP00000508752.1:p.Ser170Asn
ENST00000688922.1:c.430G>A
ENST00000688922.2:c.*339G>A	ENSP00000508742.2:n.*339G>A
ENST00000693560.1:c.1028G>A	ENSP00000509861.1:p.Ser343Asn
ENST00000700021.1:c.464G>A	ENSP00000514757.1:p.Ser155Asn
ENST00000700022.1:c.493-5719G>A	ENSP00000514758.1:n.493-5719G>A
ENST00000700023.1:n.1667G>A
ENST00000700024.1:n.1901G>A
ENST00000700025.1:n.1278G>A
ENST00000700029.1:c.343G>A
ENST00000700029.2:c.509G>A	ENSP00000514759.2:p.Ser170Asn
ENST00000706954.1:c.509G>A	ENSP00000516674.1:p.Ser170Asn
ENST00000706955.1:c.*544G>A	ENSP00000516675.1:n.*544G>A
ENST00000710265.1:c.509G>A	ENSP00000518161.1:p.Ser170Asn
XM_006717926.2:c.464G>A	XP_006717989.1:p.Ser155Asn
XM_011539981.1:c.509G>A	XP_011538283.1:p.Ser170Asn
XM_011539982.1:c.413G>A	XP_011538284.1:p.Ser138Asn
XR_945789.1:n.1380G>A
XR_945790.1:n.1497G>A
XR_945791.1:n.1205-5719G>A