Canonical Allele Identifier: CA385975425
Community Standard Title: NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88054350G>A , CM000674.2:g.88054350G>A GRCh38
NC_000012.11:g.88448127G>A , CM000674.1:g.88448127G>A GRCh37
NC_000012.10:g.86972258G>A NCBI36
NG_008417.1:g.92867C>T
NG_008417.2:g.92867C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.7024C>T MANE Select NP_079390.3:p.Gln2342Ter
ENST00000552810.6:c.7024C>T MANE Select ENSP00000448012.1:p.Gln2342Ter
NM_025114.3:c.7024C>T NP_079390.3:p.Gln2342Ter
ENST00000309041.11:c.7030C>T ENSP00000308021.7:p.Gln2344Ter
ENST00000309041.12:c.7033C>T ENSP00000308021.8:p.Gln2345Ter
ENST00000547691.6:c.4204C>T ENSP00000446905.1:p.Gln1402Ter
ENST00000547691.8:c.3993C>T
ENST00000552810.5:c.7024C>T ENSP00000448012.1:p.Gln2342Ter
ENST00000671777.2:n.803C>T
ENST00000672414.2:c.*5030C>T ENSP00000500729.1:n.*5030C>T
ENST00000672647.1:n.5384C>T
ENST00000673058.2:c.6901C>T ENSP00000500665.2:p.Gln2301Ter
ENST00000674712.1:n.551C>T
ENST00000674889.1:n.3977C>T
ENST00000674971.1:c.6961-604C>T ENSP00000502194.1:n.6961-604C>T
ENST00000675230.1:c.7003C>T ENSP00000502503.1:p.Gln2335Ter
ENST00000675408.1:c.6859C>T ENSP00000502298.1:p.Gln2287Ter
ENST00000675476.1:c.7885C>T ENSP00000502161.1:p.Gln2629Ter
ENST00000675628.1:n.8413C>T
ENST00000675794.1:c.*5195C>T ENSP00000502841.1:n.*5195C>T
ENST00000675833.1:c.7792C>T ENSP00000502559.1:p.Gln2598Ter
ENST00000675894.1:n.3329C>T
ENST00000676074.1:c.6796-604C>T ENSP00000502079.1:n.6796-604C>T
ENST00000676181.1:n.7114C>T
ENST00000676190.1:n.2625C>T
ENST00000676363.1:n.12750C>T
XM_011538756.1:c.7894C>T XP_011537058.1:p.Gln2632Ter
XM_011538756.3:c.7894C>T XP_011537058.1:p.Gln2632Ter
XM_011538757.1:c.7894C>T XP_011537059.1:p.Gln2632Ter
XM_011538757.3:c.7894C>T XP_011537059.1:p.Gln2632Ter
XM_011538758.1:c.7891C>T XP_011537060.1:p.Gln2631Ter
XM_011538758.3:c.7891C>T XP_011537060.1:p.Gln2631Ter
XM_011538759.1:c.7885C>T XP_011537061.1:p.Gln2629Ter
XM_011538759.2:c.7885C>T XP_011537061.1:p.Gln2629Ter
XM_011538760.1:c.7771C>T XP_011537062.1:p.Gln2591Ter
XM_011538760.2:c.7771C>T XP_011537062.1:p.Gln2591Ter
XM_011538761.1:c.7729C>T XP_011537063.1:p.Gln2577Ter
XM_011538761.2:c.7729C>T XP_011537063.1:p.Gln2577Ter
XM_011538762.1:c.7126C>T XP_011537064.1:p.Gln2376Ter
XM_011538762.3:c.7126C>T XP_011537064.1:p.Gln2376Ter
XM_011538763.1:c.7033C>T XP_011537065.1:p.Gln2345Ter
XM_011538763.3:c.7033C>T XP_011537065.1:p.Gln2345Ter
XM_011538766.1:c.6355C>T XP_011537068.1:p.Gln2119Ter
XM_011538766.3:c.6355C>T XP_011537068.1:p.Gln2119Ter
XM_017019980.2:c.7762C>T XP_016875469.1:p.Gln2588Ter
XM_017019981.2:c.7720C>T XP_016875470.1:p.Gln2574Ter
XM_017019982.1:c.7831-604C>T XP_016875471.1:n.7831-604C>T
XM_017019983.2:c.7012C>T XP_016875472.1:p.Gln2338Ter
XR_001748869.1:n.8166-604C>T
XR_001748870.2:n.8001-604C>T