Canonical Allele Identifier: CA9832798

Gene: CEP250

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35472166C>G , CM000682.2:g.35472166C>G	GRCh38
NC_000020.10:g.34059991C>G , CM000682.1:g.34059991C>G	GRCh37
NC_000020.9:g.33523405C>G	NCBI36
NG_051604.1:g.22029C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007186.6:c.1050+15C>G MANE Select	NP_009117.2:n.1050+15C>G
ENST00000397527.6:c.1050+15C>G MANE Select	ENSP00000380661.1:n.1050+15C>G
NM_001318219.1:c.-850+15C>G	NP_001305148.1:n.-850+15C>G
NM_007186.4:c.1050+15C>G	NP_009117.2:n.1050+15C>G
NM_007186.5:c.1050+15C>G	NP_009117.2:n.1050+15C>G
ENST00000397527.5:c.1050+15C>G	ENSP00000380661.1:n.1050+15C>G
ENST00000425934.5:c.1047+15C>G	ENSP00000413827.1:n.1047+15C>G
ENST00000461386.5:c.1050+15C>G	ENSP00000419137.1:n.1050+15C>G
ENST00000474829.1:n.243+15C>G
ENST00000706827.1:c.1092+15C>G	ENSP00000516575.1:n.1092+15C>G
ENST00000706828.1:c.1221+15C>G	ENSP00000516576.1:n.1221+15C>G
ENST00000706829.1:c.1050+15C>G	ENSP00000516577.1:n.1050+15C>G
ENST00000706830.1:c.1050+15C>G	ENSP00000516578.1:n.1050+15C>G
XM_005260262.3:c.1050+15C>G	XP_005260319.1:n.1050+15C>G
XM_005260262.4:c.1050+15C>G	XP_005260319.1:n.1050+15C>G
XM_005260263.3:c.1050+15C>G	XP_005260320.1:n.1050+15C>G
XM_005260263.4:c.1050+15C>G	XP_005260320.1:n.1050+15C>G
XM_005260264.3:c.1050+15C>G	XP_005260321.1:n.1050+15C>G
XM_005260264.4:c.1050+15C>G	XP_005260321.1:n.1050+15C>G
XM_005260265.2:c.-850+15C>G	XP_005260322.1:n.-850+15C>G
XM_006723690.2:c.1050+15C>G	XP_006723753.1:n.1050+15C>G
XM_006723690.4:c.1050+15C>G	XP_006723753.1:n.1050+15C>G
XM_006723691.1:c.1050+15C>G	XP_006723754.1:n.1050+15C>G
XM_006723692.2:c.1050+15C>G	XP_006723755.1:n.1050+15C>G
XM_006723692.4:c.1050+15C>G	XP_006723755.1:n.1050+15C>G
XM_006723693.2:c.1050+15C>G	XP_006723756.1:n.1050+15C>G
XM_006723693.4:c.1050+15C>G	XP_006723756.1:n.1050+15C>G
XM_006723694.2:c.1050+15C>G	XP_006723757.1:n.1050+15C>G
XM_006723694.3:c.1050+15C>G	XP_006723757.1:n.1050+15C>G
XM_006723695.2:c.1050+15C>G	XP_006723758.1:n.1050+15C>G
XM_011528517.1:c.1050+15C>G	XP_011526819.1:n.1050+15C>G
XM_011528517.2:c.1050+15C>G	XP_011526819.1:n.1050+15C>G
XM_011528518.1:c.681+15C>G	XP_011526820.1:n.681+15C>G
XM_011528518.3:c.681+15C>G	XP_011526820.1:n.681+15C>G
XM_011528519.1:c.444+15C>G	XP_011526821.1:n.444+15C>G
XM_011528519.2:c.444+15C>G	XP_011526821.1:n.444+15C>G
XM_011528520.1:c.1050+15C>G	XP_011526822.1:n.1050+15C>G
XM_017027617.1:c.1050+15C>G	XP_016883106.1:n.1050+15C>G
XM_017027618.1:c.318+15C>G	XP_016883107.1:n.318+15C>G
XR_001754145.1:n.1451+15C>G