Canonical Allele Identifier: CA385977365
Community Standard Title: NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88058897G>A , CM000674.2:g.88058897G>A GRCh38
NC_000012.11:g.88452674G>A , CM000674.1:g.88452674G>A GRCh37
NC_000012.10:g.86976805G>A NCBI36
NG_008417.1:g.88320C>T
NG_008417.2:g.88320C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.6769C>T MANE Select NP_079390.3:p.Gln2257Ter
ENST00000552810.6:c.6769C>T MANE Select ENSP00000448012.1:p.Gln2257Ter
NM_025114.3:c.6769C>T NP_079390.3:p.Gln2257Ter
ENST00000309041.11:c.6775C>T ENSP00000308021.7:p.Gln2259Ter
ENST00000309041.12:c.6778C>T ENSP00000308021.8:p.Gln2260Ter
ENST00000547691.6:c.3949C>T ENSP00000446905.1:p.Gln1317Ter
ENST00000547691.8:c.3929+1001C>T
ENST00000552810.5:c.6769C>T ENSP00000448012.1:p.Gln2257Ter
ENST00000671777.2:n.548C>T
ENST00000672414.2:c.*4775C>T ENSP00000500729.1:n.*4775C>T
ENST00000672647.1:n.5129C>T
ENST00000673058.2:c.6646C>T ENSP00000500665.2:p.Gln2216Ter
ENST00000674712.1:n.296C>T
ENST00000674889.1:n.3722C>T
ENST00000674971.1:c.6769C>T ENSP00000502194.1:p.Gln2257Ter
ENST00000675230.1:c.6748C>T ENSP00000502503.1:p.Gln2250Ter
ENST00000675408.1:c.6604C>T ENSP00000502298.1:p.Gln2202Ter
ENST00000675476.1:c.7630C>T ENSP00000502161.1:p.Gln2544Ter
ENST00000675628.1:n.6996C>T
ENST00000675794.1:c.*4940C>T ENSP00000502841.1:n.*4940C>T
ENST00000675833.1:c.7537C>T ENSP00000502559.1:p.Gln2513Ter
ENST00000675894.1:n.3074C>T
ENST00000676074.1:c.6604C>T ENSP00000502079.1:p.Gln2202Ter
ENST00000676181.1:n.5697C>T
ENST00000676190.1:n.1208C>T
ENST00000676363.1:n.12495C>T
XM_011538756.1:c.7639C>T XP_011537058.1:p.Gln2547Ter
XM_011538756.3:c.7639C>T XP_011537058.1:p.Gln2547Ter
XM_011538757.1:c.7639C>T XP_011537059.1:p.Gln2547Ter
XM_011538757.3:c.7639C>T XP_011537059.1:p.Gln2547Ter
XM_011538758.1:c.7636C>T XP_011537060.1:p.Gln2546Ter
XM_011538758.3:c.7636C>T XP_011537060.1:p.Gln2546Ter
XM_011538759.1:c.7630C>T XP_011537061.1:p.Gln2544Ter
XM_011538759.2:c.7630C>T XP_011537061.1:p.Gln2544Ter
XM_011538760.1:c.7516C>T XP_011537062.1:p.Gln2506Ter
XM_011538760.2:c.7516C>T XP_011537062.1:p.Gln2506Ter
XM_011538761.1:c.7474C>T XP_011537063.1:p.Gln2492Ter
XM_011538761.2:c.7474C>T XP_011537063.1:p.Gln2492Ter
XM_011538762.1:c.6871C>T XP_011537064.1:p.Gln2291Ter
XM_011538762.3:c.6871C>T XP_011537064.1:p.Gln2291Ter
XM_011538763.1:c.6778C>T XP_011537065.1:p.Gln2260Ter
XM_011538763.3:c.6778C>T XP_011537065.1:p.Gln2260Ter
XM_011538766.1:c.6100C>T XP_011537068.1:p.Gln2034Ter
XM_011538766.3:c.6100C>T XP_011537068.1:p.Gln2034Ter
XM_017019980.2:c.7507C>T XP_016875469.1:p.Gln2503Ter
XM_017019981.2:c.7465C>T XP_016875470.1:p.Gln2489Ter
XM_017019982.1:c.7639C>T XP_016875471.1:p.Gln2547Ter
XM_017019983.2:c.6757C>T XP_016875472.1:p.Gln2253Ter
XR_001748869.1:n.7974C>T
XR_001748870.2:n.7809C>T
XR_945163.1:n.967+1877G>A