Canonical Allele Identifier: CA060289

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952237A>G , CM000672.2:g.87952237A>G	GRCh38
NC_000010.10:g.89711994A>G , CM000672.1:g.89711994A>G	GRCh37
NC_000010.9:g.89701974A>G	NCBI36
NG_007466.2:g.93799A>G , LRG_311:g.93799A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.612A>G MANE Select	NP_000305.3:p.Pro204=
ENST00000371953.8:c.612A>G MANE Select	ENSP00000361021.3:p.Pro204=
NM_000314.5:c.612A>G	NP_000305.3:p.Pro204=
NM_000314.6:c.612A>G	NP_000305.3:p.Pro204=
NM_000314.7:c.612A>G	NP_000305.3:p.Pro204=
NM_001304717.2:c.1131A>G	NP_001291646.2:p.Pro377=
NM_001304717.5:c.1131A>G	NP_001291646.4:p.Pro377=
NM_001304718.1:c.21A>G	NP_001291647.1:p.Pro7=
NM_001304718.2:c.21A>G	NP_001291647.1:p.Pro7=
ENST00000371953.7:c.612A>G	ENSP00000361021.3:p.Pro204=
ENST00000472832.2:c.39A>G	ENSP00000483066.1:p.Pro13=
ENST00000472832.3:c.612A>G	ENSP00000483066.2:p.Pro204=
ENST00000686459.1:c.*198A>G	ENSP00000508909.1:n.*198A>G
ENST00000688158.1:c.*723A>G	ENSP00000509254.1:n.*723A>G
ENST00000688158.2:n.1347A>G
ENST00000688308.1:c.612A>G	ENSP00000508752.1:p.Pro204=
ENST00000688922.1:c.533A>G
ENST00000688922.2:c.*442A>G	ENSP00000508742.2:n.*442A>G
ENST00000693560.1:c.1131A>G	ENSP00000509861.1:p.Pro377=
ENST00000700021.1:c.567A>G	ENSP00000514757.1:p.Pro189=
ENST00000700022.1:c.493-5616A>G	ENSP00000514758.1:n.493-5616A>G
ENST00000700023.1:n.1770A>G
ENST00000700024.1:n.2004A>G
ENST00000700025.1:n.1381A>G
ENST00000700029.1:c.446A>G
ENST00000700029.2:c.612A>G	ENSP00000514759.2:p.Pro204=
ENST00000706954.1:c.612A>G	ENSP00000516674.1:p.Pro204=
ENST00000706955.1:c.*647A>G	ENSP00000516675.1:n.*647A>G
ENST00000710265.1:c.612A>G	ENSP00000518161.1:p.Pro204=
XM_006717926.2:c.567A>G	XP_006717989.1:p.Pro189=
XM_011539981.1:c.612A>G	XP_011538283.1:p.Pro204=
XM_011539982.1:c.516A>G	XP_011538284.1:p.Pro172=
XR_945791.1:n.1205-5616A>G