Canonical Allele Identifier: CA9833471

Gene: CEP250

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35497875C>T , CM000682.2:g.35497875C>T	GRCh38
NC_000020.10:g.34085704C>T , CM000682.1:g.34085704C>T	GRCh37
NC_000020.9:g.33549118C>T	NCBI36
NG_051604.1:g.47738C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007186.6:c.3463C>T MANE Select	NP_009117.2:p.Arg1155Ter
ENST00000397527.6:c.3463C>T MANE Select	ENSP00000380661.1:p.Arg1155Ter
NM_001318219.1:c.1567C>T	NP_001305148.1:p.Arg523Ter
NM_007186.4:c.3463C>T	NP_009117.2:p.Arg1155Ter
NM_007186.5:c.3463C>T	NP_009117.2:p.Arg1155Ter
ENST00000397527.5:c.3463C>T	ENSP00000380661.1:p.Arg1155Ter
ENST00000425525.1:c.67C>T	ENSP00000394346.1:p.Arg23Ter
ENST00000706827.1:c.*1258C>T	ENSP00000516575.1:n.*1258C>T
ENST00000706828.1:c.3634C>T	ENSP00000516576.1:p.Arg1212Ter
ENST00000706829.1:c.3463C>T	ENSP00000516577.1:p.Arg1155Ter
ENST00000706830.1:c.3463C>T	ENSP00000516578.1:p.Arg1155Ter
ENST00000706831.1:n.870C>T
XM_005260262.3:c.3463C>T	XP_005260319.1:p.Arg1155Ter
XM_005260262.4:c.3463C>T	XP_005260319.1:p.Arg1155Ter
XM_005260263.3:c.3463C>T	XP_005260320.1:p.Arg1155Ter
XM_005260263.4:c.3463C>T	XP_005260320.1:p.Arg1155Ter
XM_005260264.3:c.3232C>T	XP_005260321.1:p.Arg1078Ter
XM_005260264.4:c.3232C>T	XP_005260321.1:p.Arg1078Ter
XM_005260265.2:c.1567C>T	XP_005260322.1:p.Arg523Ter
XM_006723690.2:c.3463C>T	XP_006723753.1:p.Arg1155Ter
XM_006723690.4:c.3463C>T	XP_006723753.1:p.Arg1155Ter
XM_006723691.1:c.3463C>T	XP_006723754.1:p.Arg1155Ter
XM_006723692.2:c.3463C>T	XP_006723755.1:p.Arg1155Ter
XM_006723692.4:c.3463C>T	XP_006723755.1:p.Arg1155Ter
XM_006723693.2:c.3463C>T	XP_006723756.1:p.Arg1155Ter
XM_006723693.4:c.3463C>T	XP_006723756.1:p.Arg1155Ter
XM_006723694.2:c.3463C>T	XP_006723757.1:p.Arg1155Ter
XM_006723694.3:c.3463C>T	XP_006723757.1:p.Arg1155Ter
XM_006723695.2:c.3295C>T	XP_006723758.1:p.Arg1099Ter
XM_011528517.1:c.3463C>T	XP_011526819.1:p.Arg1155Ter
XM_011528517.2:c.3463C>T	XP_011526819.1:p.Arg1155Ter
XM_011528518.1:c.3094C>T	XP_011526820.1:p.Arg1032Ter
XM_011528518.3:c.3094C>T	XP_011526820.1:p.Arg1032Ter
XM_011528519.1:c.2857C>T	XP_011526821.1:p.Arg953Ter
XM_011528519.2:c.2857C>T	XP_011526821.1:p.Arg953Ter
XM_011528520.1:c.3463C>T	XP_011526822.1:p.Arg1155Ter
XM_017027617.1:c.3463C>T	XP_016883106.1:p.Arg1155Ter
XM_017027618.1:c.2731C>T	XP_016883107.1:p.Arg911Ter
XM_017027619.1:c.2065C>T	XP_016883108.1:p.Arg689Ter
XR_001754145.1:n.3864C>T