Canonical Allele Identifier: CA385993773
Gene: CEP290 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88083915G>C , CM000674.2:g.88083915G>C GRCh38
NC_000012.11:g.88477692G>C , CM000674.1:g.88477692G>C GRCh37
NC_000012.10:g.87001823G>C NCBI36
NG_008417.1:g.63302C>G
NG_008417.2:g.63302C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.4744C>G ENSP00000308021.8:p.His1582Asp
ENST00000547691.8:c.2028C>G
ENST00000552810.6:c.4744C>G MANE Select ENSP00000448012.1:p.His1582Asp
ENST00000672414.2:c.*2915C>G ENSP00000500729.1:n.*2915C>G
ENST00000672647.1:n.3104C>G
ENST00000673058.2:c.4744C>G ENSP00000500665.2:p.His1582Asp
ENST00000674971.1:c.4744C>G ENSP00000502194.1:p.His1582Asp
ENST00000675230.1:c.4723C>G ENSP00000502503.1:p.His1575Asp
ENST00000675408.1:c.4744C>G ENSP00000502298.1:p.His1582Asp
ENST00000675476.1:c.5605C>G ENSP00000502161.1:p.His1869Asp
ENST00000675628.1:n.4971C>G
ENST00000675794.1:c.*2915C>G ENSP00000502841.1:n.*2915C>G
ENST00000675833.1:c.5512C>G ENSP00000502559.1:p.His1838Asp
ENST00000675894.1:n.1049C>G
ENST00000676074.1:c.4744C>G ENSP00000502079.1:p.His1582Asp
ENST00000676181.1:n.3672C>G
ENST00000676363.1:n.10470C>G
ENST00000676448.1:c.*2657C>G ENSP00000501987.1:n.*2657C>G
ENST00000309041.11:c.4750C>G ENSP00000308021.7:p.His1584Asp
ENST00000547691.6:c.1924C>G ENSP00000446905.1:p.His642Asp
ENST00000552810.5:c.4744C>G ENSP00000448012.1:p.His1582Asp
NM_025114.3:c.4744C>G NP_079390.3:p.His1582Asp
XM_011538756.1:c.5605C>G XP_011537058.1:p.His1869Asp
XM_011538757.1:c.5605C>G XP_011537059.1:p.His1869Asp
XM_011538758.1:c.5605C>G XP_011537060.1:p.His1869Asp
XM_011538759.1:c.5605C>G XP_011537061.1:p.His1869Asp
XM_011538760.1:c.5605C>G XP_011537062.1:p.His1869Asp
XM_011538761.1:c.5605C>G XP_011537063.1:p.His1869Asp
XM_011538762.1:c.4837C>G XP_011537064.1:p.His1613Asp
XM_011538763.1:c.4744C>G XP_011537065.1:p.His1582Asp
XM_011538764.1:c.5605C>G XP_011537066.1:p.His1869Asp
XM_011538765.1:c.5605C>G XP_011537067.1:p.His1869Asp
XM_011538766.1:c.4066C>G XP_011537068.1:p.His1356Asp
XM_011538756.3:c.5605C>G XP_011537058.1:p.His1869Asp
XM_011538757.3:c.5605C>G XP_011537059.1:p.His1869Asp
XM_011538758.3:c.5605C>G XP_011537060.1:p.His1869Asp
XM_011538759.2:c.5605C>G XP_011537061.1:p.His1869Asp
XM_011538760.2:c.5605C>G XP_011537062.1:p.His1869Asp
XM_011538761.2:c.5605C>G XP_011537063.1:p.His1869Asp
XM_011538762.3:c.4837C>G XP_011537064.1:p.His1613Asp
XM_011538763.3:c.4744C>G XP_011537065.1:p.His1582Asp
XM_011538764.3:c.5605C>G XP_011537066.1:p.His1869Asp
XM_011538765.3:c.5605C>G XP_011537067.1:p.His1869Asp
XM_011538766.3:c.4066C>G XP_011537068.1:p.His1356Asp
XM_017019980.2:c.5605C>G XP_016875469.1:p.His1869Asp
XM_017019981.2:c.5605C>G XP_016875470.1:p.His1869Asp
XM_017019982.1:c.5605C>G XP_016875471.1:p.His1869Asp
XM_017019983.2:c.4723C>G XP_016875472.1:p.His1575Asp
XR_001748869.1:n.5949C>G
XR_001748870.2:n.5949C>G
NM_025114.4:c.4744C>G MANE Select NP_079390.3:p.His1582Asp