Canonical Allele Identifier: CA377482282

Gene: PTEN

Linked Data - Predicted Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933128C>A , CM000672.2:g.87933128C>A	GRCh38
NC_000010.10:g.89692885C>A , CM000672.1:g.89692885C>A	GRCh37
NC_000010.9:g.89682865C>A	NCBI36
NG_007466.2:g.74690C>A , LRG_311:g.74690C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.369C>A	ENSP00000514759.2:p.His123Gln
ENST00000710265.1:c.369C>A	ENSP00000518161.1:p.His123Gln
ENST00000472832.3:c.369C>A	ENSP00000483066.2:p.His123Gln
ENST00000688158.2:n.1104C>A
ENST00000688922.2:c.*199C>A	ENSP00000508742.2:n.*199C>A
ENST00000700021.1:c.324C>A	ENSP00000514757.1:p.His108Gln
ENST00000700022.1:c.369C>A	ENSP00000514758.1:p.His123Gln
ENST00000700029.1:c.203C>A
ENST00000706954.1:c.369C>A	ENSP00000516674.1:p.His123Gln
ENST00000706955.1:c.*404C>A	ENSP00000516675.1:n.*404C>A
ENST00000686459.1:c.369C>A	ENSP00000508909.1:p.His123Gln
ENST00000688158.1:c.*480C>A	ENSP00000509254.1:n.*480C>A
ENST00000688308.1:c.369C>A	ENSP00000508752.1:p.His123Gln
ENST00000688922.1:c.290C>A
ENST00000693560.1:c.888C>A	ENSP00000509861.1:p.His296Gln
ENST00000371953.8:c.369C>A MANE Select	ENSP00000361021.3:p.His123Gln
ENST00000371953.7:c.369C>A	ENSP00000361021.3:p.His123Gln
ENST00000498703.1:n.195C>A
ENST00000610634.1:c.267C>A	ENSP00000477517.1:p.His89Gln
NM_000314.5:c.369C>A	NP_000305.3:p.His123Gln
NM_000314.6:c.369C>A	NP_000305.3:p.His123Gln
NM_001304717.2:c.888C>A	NP_001291646.2:p.His296Gln
NM_001304718.1:c.-382C>A	NP_001291647.1:n.-382C>A
XM_006717926.2:c.324C>A	XP_006717989.1:p.His108Gln
XM_011539981.1:c.369C>A	XP_011538283.1:p.His123Gln
XM_011539982.1:c.273C>A	XP_011538284.1:p.His91Gln
XR_945789.1:n.1081C>A
XR_945790.1:n.1081C>A
XR_945791.1:n.1081C>A
NM_000314.7:c.369C>A	NP_000305.3:p.His123Gln
NM_001304717.5:c.888C>A	NP_001291646.4:p.His296Gln
NM_001304718.2:c.-382C>A	NP_001291647.1:n.-382C>A
NM_000314.8:c.369C>A MANE Select	NP_000305.3:p.His123Gln