Canonical Allele Identifier: CA2580098136

Gene: CEP250

Linked Data

• ClinVar Variation Id: 2002953
• ClinVar RCV Id: RCV002824973

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35466024C>A , CM000682.2:g.35466024C>A	GRCh38
NC_000020.10:g.34053849C>A , CM000682.1:g.34053849C>A	GRCh37
NC_000020.9:g.33517263C>A	NCBI36
NG_051604.1:g.15887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706827.1:c.327-15C>A	ENSP00000516575.1:n.327-15C>A
ENST00000706828.1:c.327-15C>A	ENSP00000516576.1:n.327-15C>A
ENST00000706829.1:c.327-15C>A	ENSP00000516577.1:n.327-15C>A
ENST00000706830.1:c.327-15C>A	ENSP00000516578.1:n.327-15C>A
ENST00000397527.6:c.327-15C>A MANE Select	ENSP00000380661.1:n.327-15C>A
ENST00000397524.5:c.327-15C>A	ENSP00000380658.1:n.327-15C>A
ENST00000397527.5:c.327-15C>A	ENSP00000380661.1:n.327-15C>A
ENST00000420564.5:c.327-15C>A	ENSP00000414651.1:n.327-15C>A
ENST00000425934.5:c.327-15C>A	ENSP00000413827.1:n.327-15C>A
ENST00000446710.5:c.327-15C>A	ENSP00000398747.1:n.327-15C>A
ENST00000461386.5:c.327-15C>A	ENSP00000419137.1:n.327-15C>A
ENST00000465987.1:n.63-15C>A
NM_007186.4:c.327-15C>A	NP_009117.2:n.327-15C>A
XM_005260262.3:c.327-15C>A	XP_005260319.1:n.327-15C>A
XM_005260263.3:c.327-15C>A	XP_005260320.1:n.327-15C>A
XM_005260264.3:c.327-15C>A	XP_005260321.1:n.327-15C>A
XM_005260265.2:c.-1573-15C>A	XP_005260322.1:n.-1573-15C>A
XM_006723690.2:c.327-15C>A	XP_006723753.1:n.327-15C>A
XM_006723691.1:c.327-15C>A	XP_006723754.1:n.327-15C>A
XM_006723692.2:c.327-15C>A	XP_006723755.1:n.327-15C>A
XM_006723693.2:c.327-15C>A	XP_006723756.1:n.327-15C>A
XM_006723694.2:c.327-15C>A	XP_006723757.1:n.327-15C>A
XM_006723695.2:c.327-15C>A	XP_006723758.1:n.327-15C>A
XM_011528517.1:c.327-15C>A	XP_011526819.1:n.327-15C>A
XM_011528518.1:c.-48-10C>A	XP_011526820.1:n.-48-10C>A
XM_011528520.1:c.327-15C>A	XP_011526822.1:n.327-15C>A
NM_001318219.1:c.-1573-15C>A	NP_001305148.1:n.-1573-15C>A
NM_007186.5:c.327-15C>A	NP_009117.2:n.327-15C>A
XM_005260262.4:c.327-15C>A	XP_005260319.1:n.327-15C>A
XM_005260263.4:c.327-15C>A	XP_005260320.1:n.327-15C>A
XM_005260264.4:c.327-15C>A	XP_005260321.1:n.327-15C>A
XM_006723690.4:c.327-15C>A	XP_006723753.1:n.327-15C>A
XM_006723692.4:c.327-15C>A	XP_006723755.1:n.327-15C>A
XM_006723693.4:c.327-15C>A	XP_006723756.1:n.327-15C>A
XM_006723694.3:c.327-15C>A	XP_006723757.1:n.327-15C>A
XM_011528517.2:c.327-15C>A	XP_011526819.1:n.327-15C>A
XM_011528518.3:c.-48-10C>A	XP_011526820.1:n.-48-10C>A
XM_017027617.1:c.327-15C>A	XP_016883106.1:n.327-15C>A
XR_001754145.1:n.728-15C>A
NM_007186.6:c.327-15C>A MANE Select	NP_009117.2:n.327-15C>A