Canonical Allele Identifier: CA314164922

Gene: CEP250

Linked Data

• dbSNP Id: rs373035503
• MyVariant Identifiers: chr20:g.34097302G>A (hg19) ; chr20:g.35509473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35509473G>A , CM000682.2:g.35509473G>A	GRCh38
NC_000020.10:g.34097302G>A , CM000682.1:g.34097302G>A	GRCh37
NC_000020.9:g.33560716G>A	NCBI36
NG_051604.1:g.59336G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706827.1:c.*4803+429G>A	ENSP00000516575.1:n.*4803+429G>A
ENST00000706828.1:c.7179+429G>A	ENSP00000516576.1:n.7179+429G>A
ENST00000706829.1:c.7008+429G>A	ENSP00000516577.1:n.7008+429G>A
ENST00000706830.1:c.6894+429G>A	ENSP00000516578.1:n.6894+429G>A
ENST00000706831.1:n.4415+429G>A
ENST00000706832.1:n.1514G>A
ENST00000397527.6:c.7008+429G>A MANE Select	ENSP00000380661.1:n.7008+429G>A
ENST00000397527.5:c.7008+429G>A	ENSP00000380661.1:n.7008+429G>A
ENST00000422671.1:c.2370+1283G>A	ENSP00000395992.1:n.2370+1283G>A
NM_007186.4:c.7008+429G>A	NP_009117.2:n.7008+429G>A
XM_005260262.3:c.7008+429G>A	XP_005260319.1:n.7008+429G>A
XM_005260263.3:c.7008+429G>A	XP_005260320.1:n.7008+429G>A
XM_005260264.3:c.6777+429G>A	XP_005260321.1:n.6777+429G>A
XM_005260265.2:c.5112+429G>A	XP_005260322.1:n.5112+429G>A
XM_006723690.2:c.7008+429G>A	XP_006723753.1:n.7008+429G>A
XM_006723691.1:c.7008+429G>A	XP_006723754.1:n.7008+429G>A
XM_006723692.2:c.7008+429G>A	XP_006723755.1:n.7008+429G>A
XM_006723693.2:c.7008+429G>A	XP_006723756.1:n.7008+429G>A
XM_006723694.2:c.6894+429G>A	XP_006723757.1:n.6894+429G>A
XM_006723695.2:c.6840+429G>A	XP_006723758.1:n.6840+429G>A
XM_011528517.1:c.7008+429G>A	XP_011526819.1:n.7008+429G>A
XM_011528518.1:c.6639+429G>A	XP_011526820.1:n.6639+429G>A
XM_011528519.1:c.6402+429G>A	XP_011526821.1:n.6402+429G>A
NM_001318219.1:c.5112+429G>A	NP_001305148.1:n.5112+429G>A
NM_007186.5:c.7008+429G>A	NP_009117.2:n.7008+429G>A
XM_005260262.4:c.7008+429G>A	XP_005260319.1:n.7008+429G>A
XM_005260263.4:c.7008+429G>A	XP_005260320.1:n.7008+429G>A
XM_005260264.4:c.6777+429G>A	XP_005260321.1:n.6777+429G>A
XM_006723690.4:c.7008+429G>A	XP_006723753.1:n.7008+429G>A
XM_006723692.4:c.7008+429G>A	XP_006723755.1:n.7008+429G>A
XM_006723693.4:c.7008+429G>A	XP_006723756.1:n.7008+429G>A
XM_006723694.3:c.6894+429G>A	XP_006723757.1:n.6894+429G>A
XM_011528517.2:c.7008+429G>A	XP_011526819.1:n.7008+429G>A
XM_011528518.3:c.6639+429G>A	XP_011526820.1:n.6639+429G>A
XM_011528519.2:c.6402+429G>A	XP_011526821.1:n.6402+429G>A
XM_017027617.1:c.6894+429G>A	XP_016883106.1:n.6894+429G>A
XM_017027618.1:c.6276+429G>A	XP_016883107.1:n.6276+429G>A
XM_017027619.1:c.5610+429G>A	XP_016883108.1:n.5610+429G>A
NM_007186.6:c.7008+429G>A MANE Select	NP_009117.2:n.7008+429G>A