Canonical Allele Identifier: CA1017193008

Gene: CEP250

Linked Data

• dbSNP Id: rs2064292601
• gnomAD v3: 20-35509425-C-G
• gnomAD v4: 20-35509425-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35509425C>G , CM000682.2:g.35509425C>G	GRCh38
NC_000020.10:g.34097254C>G , CM000682.1:g.34097254C>G	GRCh37
NC_000020.9:g.33560668C>G	NCBI36
NG_051604.1:g.59288C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706827.1:c.*4803+381C>G	ENSP00000516575.1:n.*4803+381C>G
ENST00000706828.1:c.7179+381C>G	ENSP00000516576.1:n.7179+381C>G
ENST00000706829.1:c.7008+381C>G	ENSP00000516577.1:n.7008+381C>G
ENST00000706830.1:c.6894+381C>G	ENSP00000516578.1:n.6894+381C>G
ENST00000706831.1:n.4415+381C>G
ENST00000706832.1:n.1466C>G
ENST00000397527.6:c.7008+381C>G MANE Select	ENSP00000380661.1:n.7008+381C>G
ENST00000397527.5:c.7008+381C>G	ENSP00000380661.1:n.7008+381C>G
ENST00000422671.1:c.2370+1235C>G	ENSP00000395992.1:n.2370+1235C>G
NM_007186.4:c.7008+381C>G	NP_009117.2:n.7008+381C>G
XM_005260262.3:c.7008+381C>G	XP_005260319.1:n.7008+381C>G
XM_005260263.3:c.7008+381C>G	XP_005260320.1:n.7008+381C>G
XM_005260264.3:c.6777+381C>G	XP_005260321.1:n.6777+381C>G
XM_005260265.2:c.5112+381C>G	XP_005260322.1:n.5112+381C>G
XM_006723690.2:c.7008+381C>G	XP_006723753.1:n.7008+381C>G
XM_006723691.1:c.7008+381C>G	XP_006723754.1:n.7008+381C>G
XM_006723692.2:c.7008+381C>G	XP_006723755.1:n.7008+381C>G
XM_006723693.2:c.7008+381C>G	XP_006723756.1:n.7008+381C>G
XM_006723694.2:c.6894+381C>G	XP_006723757.1:n.6894+381C>G
XM_006723695.2:c.6840+381C>G	XP_006723758.1:n.6840+381C>G
XM_011528517.1:c.7008+381C>G	XP_011526819.1:n.7008+381C>G
XM_011528518.1:c.6639+381C>G	XP_011526820.1:n.6639+381C>G
XM_011528519.1:c.6402+381C>G	XP_011526821.1:n.6402+381C>G
NM_001318219.1:c.5112+381C>G	NP_001305148.1:n.5112+381C>G
NM_007186.5:c.7008+381C>G	NP_009117.2:n.7008+381C>G
XM_005260262.4:c.7008+381C>G	XP_005260319.1:n.7008+381C>G
XM_005260263.4:c.7008+381C>G	XP_005260320.1:n.7008+381C>G
XM_005260264.4:c.6777+381C>G	XP_005260321.1:n.6777+381C>G
XM_006723690.4:c.7008+381C>G	XP_006723753.1:n.7008+381C>G
XM_006723692.4:c.7008+381C>G	XP_006723755.1:n.7008+381C>G
XM_006723693.4:c.7008+381C>G	XP_006723756.1:n.7008+381C>G
XM_006723694.3:c.6894+381C>G	XP_006723757.1:n.6894+381C>G
XM_011528517.2:c.7008+381C>G	XP_011526819.1:n.7008+381C>G
XM_011528518.3:c.6639+381C>G	XP_011526820.1:n.6639+381C>G
XM_011528519.2:c.6402+381C>G	XP_011526821.1:n.6402+381C>G
XM_017027617.1:c.6894+381C>G	XP_016883106.1:n.6894+381C>G
XM_017027618.1:c.6276+381C>G	XP_016883107.1:n.6276+381C>G
XM_017027619.1:c.5610+381C>G	XP_016883108.1:n.5610+381C>G
NM_007186.6:c.7008+381C>G MANE Select	NP_009117.2:n.7008+381C>G