Canonical Allele Identifier: CA385973620
Community Standard Title: NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88050365G>A , CM000674.2:g.88050365G>A GRCh38
NC_000012.11:g.88444142G>A , CM000674.1:g.88444142G>A GRCh37
NC_000012.10:g.86968273G>A NCBI36
NG_008417.1:g.96852C>T
NG_008417.2:g.96852C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.7198C>T MANE Select NP_079390.3:p.Gln2400Ter
ENST00000552810.6:c.7198C>T MANE Select ENSP00000448012.1:p.Gln2400Ter
NM_025114.3:c.7198C>T NP_079390.3:p.Gln2400Ter
ENST00000309041.11:c.7204C>T ENSP00000308021.7:p.Gln2402Ter
ENST00000309041.12:c.7207C>T ENSP00000308021.8:p.Gln2403Ter
ENST00000547691.6:c.4378C>T ENSP00000446905.1:p.Gln1460Ter
ENST00000547691.8:c.4167C>T
ENST00000552810.5:c.7198C>T ENSP00000448012.1:p.Gln2400Ter
ENST00000671777.2:n.977C>T
ENST00000672414.2:c.*5204C>T ENSP00000500729.1:n.*5204C>T
ENST00000672647.1:n.5558C>T
ENST00000673058.2:c.7075C>T ENSP00000500665.2:p.Gln2359Ter
ENST00000674712.1:n.725C>T
ENST00000674889.1:n.4151C>T
ENST00000674971.1:c.*155C>T ENSP00000502194.1:n.*155C>T
ENST00000675230.1:c.7177C>T ENSP00000502503.1:p.Gln2393Ter
ENST00000675408.1:c.7033C>T ENSP00000502298.1:p.Gln2345Ter
ENST00000675476.1:c.8059C>T ENSP00000502161.1:p.Gln2687Ter
ENST00000675628.1:n.9180C>T
ENST00000675794.1:c.*5369C>T ENSP00000502841.1:n.*5369C>T
ENST00000675833.1:c.7966C>T ENSP00000502559.1:p.Gln2656Ter
ENST00000675894.1:n.3503C>T
ENST00000676074.1:c.*155C>T ENSP00000502079.1:n.*155C>T
ENST00000676181.1:n.7881C>T
ENST00000676190.1:n.3392C>T
ENST00000676363.1:n.12924C>T
XM_011538756.1:c.8068C>T XP_011537058.1:p.Gln2690Ter
XM_011538756.3:c.8068C>T XP_011537058.1:p.Gln2690Ter
XM_011538757.1:c.8068C>T XP_011537059.1:p.Gln2690Ter
XM_011538757.3:c.8068C>T XP_011537059.1:p.Gln2690Ter
XM_011538758.1:c.8065C>T XP_011537060.1:p.Gln2689Ter
XM_011538758.3:c.8065C>T XP_011537060.1:p.Gln2689Ter
XM_011538759.1:c.8059C>T XP_011537061.1:p.Gln2687Ter
XM_011538759.2:c.8059C>T XP_011537061.1:p.Gln2687Ter
XM_011538760.1:c.7945C>T XP_011537062.1:p.Gln2649Ter
XM_011538760.2:c.7945C>T XP_011537062.1:p.Gln2649Ter
XM_011538761.1:c.7903C>T XP_011537063.1:p.Gln2635Ter
XM_011538761.2:c.7903C>T XP_011537063.1:p.Gln2635Ter
XM_011538762.1:c.7300C>T XP_011537064.1:p.Gln2434Ter
XM_011538762.3:c.7300C>T XP_011537064.1:p.Gln2434Ter
XM_011538763.1:c.7207C>T XP_011537065.1:p.Gln2403Ter
XM_011538763.3:c.7207C>T XP_011537065.1:p.Gln2403Ter
XM_011538766.1:c.6529C>T XP_011537068.1:p.Gln2177Ter
XM_011538766.3:c.6529C>T XP_011537068.1:p.Gln2177Ter
XM_017019980.2:c.7936C>T XP_016875469.1:p.Gln2646Ter
XM_017019981.2:c.7894C>T XP_016875470.1:p.Gln2632Ter
XM_017019983.2:c.7186C>T XP_016875472.1:p.Gln2396Ter
XR_001748869.1:n.8329C>T
XR_001748870.2:n.8164C>T