Canonical Allele Identifier: CA408763091

Gene: CEP250

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35474015G>A , CM000682.2:g.35474015G>A	GRCh38
NC_000020.10:g.34061840G>A , CM000682.1:g.34061840G>A	GRCh37
NC_000020.9:g.33525254G>A	NCBI36
NG_051604.1:g.23878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706827.1:c.1576G>A	ENSP00000516575.1:p.Glu526Lys
ENST00000706828.1:c.1705G>A	ENSP00000516576.1:p.Glu569Lys
ENST00000706829.1:c.1534G>A	ENSP00000516577.1:p.Glu512Lys
ENST00000706830.1:c.1534G>A	ENSP00000516578.1:p.Glu512Lys
ENST00000397527.6:c.1534G>A MANE Select	ENSP00000380661.1:p.Glu512Lys
ENST00000397527.5:c.1534G>A	ENSP00000380661.1:p.Glu512Lys
ENST00000425096.1:c.15G>A
ENST00000425934.5:c.1531G>A	ENSP00000413827.1:p.Glu511Lys
ENST00000461386.5:c.1534G>A	ENSP00000419137.1:p.Glu512Lys
NM_007186.4:c.1534G>A	NP_009117.2:p.Glu512Lys
XM_005260262.3:c.1534G>A	XP_005260319.1:p.Glu512Lys
XM_005260263.3:c.1534G>A	XP_005260320.1:p.Glu512Lys
XM_005260264.3:c.1534G>A	XP_005260321.1:p.Glu512Lys
XM_005260265.2:c.-366G>A	XP_005260322.1:n.-366G>A
XM_006723690.2:c.1534G>A	XP_006723753.1:p.Glu512Lys
XM_006723691.1:c.1534G>A	XP_006723754.1:p.Glu512Lys
XM_006723692.2:c.1534G>A	XP_006723755.1:p.Glu512Lys
XM_006723693.2:c.1534G>A	XP_006723756.1:p.Glu512Lys
XM_006723694.2:c.1534G>A	XP_006723757.1:p.Glu512Lys
XM_006723695.2:c.1534G>A	XP_006723758.1:p.Glu512Lys
XM_011528517.1:c.1534G>A	XP_011526819.1:p.Glu512Lys
XM_011528518.1:c.1165G>A	XP_011526820.1:p.Glu389Lys
XM_011528519.1:c.928G>A	XP_011526821.1:p.Glu310Lys
XM_011528520.1:c.1534G>A	XP_011526822.1:p.Glu512Lys
NM_001318219.1:c.-366G>A	NP_001305148.1:n.-366G>A
NM_007186.5:c.1534G>A	NP_009117.2:p.Glu512Lys
XM_005260262.4:c.1534G>A	XP_005260319.1:p.Glu512Lys
XM_005260263.4:c.1534G>A	XP_005260320.1:p.Glu512Lys
XM_005260264.4:c.1534G>A	XP_005260321.1:p.Glu512Lys
XM_006723690.4:c.1534G>A	XP_006723753.1:p.Glu512Lys
XM_006723692.4:c.1534G>A	XP_006723755.1:p.Glu512Lys
XM_006723693.4:c.1534G>A	XP_006723756.1:p.Glu512Lys
XM_006723694.3:c.1534G>A	XP_006723757.1:p.Glu512Lys
XM_011528517.2:c.1534G>A	XP_011526819.1:p.Glu512Lys
XM_011528518.3:c.1165G>A	XP_011526820.1:p.Glu389Lys
XM_011528519.2:c.928G>A	XP_011526821.1:p.Glu310Lys
XM_017027617.1:c.1534G>A	XP_016883106.1:p.Glu512Lys
XM_017027618.1:c.802G>A	XP_016883107.1:p.Glu268Lys
XM_017027619.1:c.77G>A	XP_016883108.1:p.Gly26Glu
XR_001754145.1:n.1935G>A
NM_007186.6:c.1534G>A MANE Select	NP_009117.2:p.Glu512Lys