Canonical Allele Identifier: CA14773714
Gene: CEP250 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2236164

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35509524T>C , CM000682.2:g.35509524T>C GRCh38
NC_000020.10:g.34097353T>C , CM000682.1:g.34097353T>C GRCh37
NC_000020.9:g.33560767T>C NCBI36
NG_051604.1:g.59387T>C

Transcript Alleles

HGVS Amino-acid change
NM_007186.4:c.7009-474T>C VV NP_009117.2:p.=
XM_005260262.3:c.7009-474T>C XP_005260319.1:p.=
XM_005260263.3:c.7009-474T>C XP_005260320.1:p.=
XM_005260264.3:c.6778-474T>C XP_005260321.1:p.=
XM_005260265.2:c.5113-474T>C XP_005260322.1:p.=
XM_006723690.2:c.7009-474T>C XP_006723753.1:p.=
XM_006723691.1:c.7009-474T>C XP_006723754.1:p.=
XM_006723692.2:c.7009-474T>C XP_006723755.1:p.=
XM_006723693.2:c.7009-474T>C XP_006723756.1:p.=
XM_006723694.2:c.6895-474T>C XP_006723757.1:p.=
XM_006723695.2:c.6841-474T>C XP_006723758.1:p.=
XM_011528517.1:c.7009-474T>C XP_011526819.1:p.=
XM_011528518.1:c.6640-474T>C XP_011526820.1:p.=
XM_011528519.1:c.6403-474T>C XP_011526821.1:p.=
NM_001318219.1:c.5113-474T>C VV NP_001305148.1:p.=
NM_007186.5:c.7009-474T>C VV NP_009117.2:p.=
XM_005260262.4:c.7009-474T>C XP_005260319.1:p.=
XM_005260263.4:c.7009-474T>C XP_005260320.1:p.=
XM_005260264.4:c.6778-474T>C XP_005260321.1:p.=
XM_006723690.4:c.7009-474T>C XP_006723753.1:p.=
XM_006723692.4:c.7009-474T>C XP_006723755.1:p.=
XM_006723693.4:c.7009-474T>C XP_006723756.1:p.=
XM_006723694.3:c.6895-474T>C XP_006723757.1:p.=
XM_011528517.2:c.7009-474T>C XP_011526819.1:p.=
XM_011528518.3:c.6640-474T>C XP_011526820.1:p.=
XM_011528519.2:c.6403-474T>C XP_011526821.1:p.=
XM_017027617.1:c.6895-474T>C XP_016883106.1:p.=
XM_017027618.1:c.6277-474T>C XP_016883107.1:p.=
XM_017027619.1:c.5611-474T>C XP_016883108.1:p.=
NM_007186.6:c.7009-474T>C VV MANE Preferred NP_009117.2:p.=
ENST00000397527.5:c.7009-474T>C ENSP00000380661.1:p.=
ENST00000422671.1:n.2370+1334T>C ENSP00000395992.1:p.=