Canonical Allele Identifier: CA408742540

Gene: CEP250

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35496617G>A , CM000682.2:g.35496617G>A	GRCh38
NC_000020.10:g.34084446G>A , CM000682.1:g.34084446G>A	GRCh37
NC_000020.9:g.33547860G>A	NCBI36
NG_051604.1:g.46480G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007186.6:c.3208G>A MANE Select	NP_009117.2:p.Val1070Ile
ENST00000397527.6:c.3208G>A MANE Select	ENSP00000380661.1:p.Val1070Ile
NM_001318219.1:c.1312G>A	NP_001305148.1:p.Val438Ile
NM_007186.4:c.3208G>A	NP_009117.2:p.Val1070Ile
NM_007186.5:c.3208G>A	NP_009117.2:p.Val1070Ile
ENST00000397527.5:c.3208G>A	ENSP00000380661.1:p.Val1070Ile
ENST00000487467.1:n.321G>A
ENST00000706827.1:c.*1003G>A	ENSP00000516575.1:n.*1003G>A
ENST00000706828.1:c.3379G>A	ENSP00000516576.1:p.Val1127Ile
ENST00000706829.1:c.3208G>A	ENSP00000516577.1:p.Val1070Ile
ENST00000706830.1:c.3208G>A	ENSP00000516578.1:p.Val1070Ile
ENST00000706831.1:n.615G>A
XM_005260262.3:c.3208G>A	XP_005260319.1:p.Val1070Ile
XM_005260262.4:c.3208G>A	XP_005260319.1:p.Val1070Ile
XM_005260263.3:c.3208G>A	XP_005260320.1:p.Val1070Ile
XM_005260263.4:c.3208G>A	XP_005260320.1:p.Val1070Ile
XM_005260264.3:c.2977G>A	XP_005260321.1:p.Val993Ile
XM_005260264.4:c.2977G>A	XP_005260321.1:p.Val993Ile
XM_005260265.2:c.1312G>A	XP_005260322.1:p.Val438Ile
XM_006723690.2:c.3208G>A	XP_006723753.1:p.Val1070Ile
XM_006723690.4:c.3208G>A	XP_006723753.1:p.Val1070Ile
XM_006723691.1:c.3208G>A	XP_006723754.1:p.Val1070Ile
XM_006723692.2:c.3208G>A	XP_006723755.1:p.Val1070Ile
XM_006723692.4:c.3208G>A	XP_006723755.1:p.Val1070Ile
XM_006723693.2:c.3208G>A	XP_006723756.1:p.Val1070Ile
XM_006723693.4:c.3208G>A	XP_006723756.1:p.Val1070Ile
XM_006723694.2:c.3208G>A	XP_006723757.1:p.Val1070Ile
XM_006723694.3:c.3208G>A	XP_006723757.1:p.Val1070Ile
XM_006723695.2:c.3040G>A	XP_006723758.1:p.Val1014Ile
XM_011528517.1:c.3208G>A	XP_011526819.1:p.Val1070Ile
XM_011528517.2:c.3208G>A	XP_011526819.1:p.Val1070Ile
XM_011528518.1:c.2839G>A	XP_011526820.1:p.Val947Ile
XM_011528518.3:c.2839G>A	XP_011526820.1:p.Val947Ile
XM_011528519.1:c.2602G>A	XP_011526821.1:p.Val868Ile
XM_011528519.2:c.2602G>A	XP_011526821.1:p.Val868Ile
XM_011528520.1:c.3208G>A	XP_011526822.1:p.Val1070Ile
XM_017027617.1:c.3208G>A	XP_016883106.1:p.Val1070Ile
XM_017027618.1:c.2476G>A	XP_016883107.1:p.Val826Ile
XM_017027619.1:c.1810G>A	XP_016883108.1:p.Val604Ile
XR_001754145.1:n.3609G>A