Canonical Allele Identifier: CA510316334

Gene: CEP250

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35472733T>C , CM000682.2:g.35472733T>C	GRCh38
NC_000020.10:g.34060558T>C , CM000682.1:g.34060558T>C	GRCh37
NC_000020.9:g.33523972T>C	NCBI36
NG_051604.1:g.22596T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706827.1:c.1153T>C	ENSP00000516575.1:p.Leu385=
ENST00000706828.1:c.1282T>C	ENSP00000516576.1:p.Leu428=
ENST00000706829.1:c.1111T>C	ENSP00000516577.1:p.Leu371=
ENST00000706830.1:c.1111T>C	ENSP00000516578.1:p.Leu371=
ENST00000397527.6:c.1111T>C MANE Select	ENSP00000380661.1:p.Leu371=
ENST00000397527.5:c.1111T>C	ENSP00000380661.1:p.Leu371=
ENST00000425934.5:c.1108T>C	ENSP00000413827.1:p.Leu370=
ENST00000461386.5:c.1111T>C	ENSP00000419137.1:p.Leu371=
ENST00000474829.1:n.304T>C
NM_007186.4:c.1111T>C	NP_009117.2:p.Leu371=
XM_005260262.3:c.1111T>C	XP_005260319.1:p.Leu371=
XM_005260263.3:c.1111T>C	XP_005260320.1:p.Leu371=
XM_005260264.3:c.1111T>C	XP_005260321.1:p.Leu371=
XM_005260265.2:c.-789T>C	XP_005260322.1:n.-789T>C
XM_006723690.2:c.1111T>C	XP_006723753.1:p.Leu371=
XM_006723691.1:c.1111T>C	XP_006723754.1:p.Leu371=
XM_006723692.2:c.1111T>C	XP_006723755.1:p.Leu371=
XM_006723693.2:c.1111T>C	XP_006723756.1:p.Leu371=
XM_006723694.2:c.1111T>C	XP_006723757.1:p.Leu371=
XM_006723695.2:c.1111T>C	XP_006723758.1:p.Leu371=
XM_011528517.1:c.1111T>C	XP_011526819.1:p.Leu371=
XM_011528518.1:c.742T>C	XP_011526820.1:p.Leu248=
XM_011528519.1:c.505T>C	XP_011526821.1:p.Leu169=
XM_011528520.1:c.1111T>C	XP_011526822.1:p.Leu371=
NM_001318219.1:c.-789T>C	NP_001305148.1:n.-789T>C
NM_007186.5:c.1111T>C	NP_009117.2:p.Leu371=
XM_005260262.4:c.1111T>C	XP_005260319.1:p.Leu371=
XM_005260263.4:c.1111T>C	XP_005260320.1:p.Leu371=
XM_005260264.4:c.1111T>C	XP_005260321.1:p.Leu371=
XM_006723690.4:c.1111T>C	XP_006723753.1:p.Leu371=
XM_006723692.4:c.1111T>C	XP_006723755.1:p.Leu371=
XM_006723693.4:c.1111T>C	XP_006723756.1:p.Leu371=
XM_006723694.3:c.1111T>C	XP_006723757.1:p.Leu371=
XM_011528517.2:c.1111T>C	XP_011526819.1:p.Leu371=
XM_011528518.3:c.742T>C	XP_011526820.1:p.Leu248=
XM_011528519.2:c.505T>C	XP_011526821.1:p.Leu169=
XM_017027617.1:c.1111T>C	XP_016883106.1:p.Leu371=
XM_017027618.1:c.379T>C	XP_016883107.1:p.Leu127=
XR_001754145.1:n.1512T>C
NM_007186.6:c.1111T>C MANE Select	NP_009117.2:p.Leu371=