Canonical Allele Identifier: CA2052901723
Community Standard Title: NM_025114.4(CEP290):c.7048C= (p.Gln2350=)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88053733G= , CM000674.2:g.88053733G= GRCh38
NC_000012.11:g.88447510G= , CM000674.1:g.88447510G= GRCh37
NC_000012.10:g.86971641G= NCBI36
NG_008417.1:g.93484C=
NG_008417.2:g.93484C=

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.7048C= MANE Select NP_079390.3:p.Gln2350=
ENST00000552810.6:c.7048C= MANE Select ENSP00000448012.1:p.Gln2350=
NM_025114.3:c.7048C= NP_079390.3:p.Gln2350=
ENST00000309041.11:c.7054C= ENSP00000308021.7:p.Gln2352=
ENST00000309041.12:c.7057C= ENSP00000308021.8:p.Gln2353=
ENST00000547691.6:c.4228C= ENSP00000446905.1:p.Gln1410=
ENST00000547691.8:c.4017C=
ENST00000552810.5:c.7048C= ENSP00000448012.1:p.Gln2350=
ENST00000671777.2:n.827C=
ENST00000672414.2:c.*5054C= ENSP00000500729.1:n.*5054C=
ENST00000672647.1:n.5408C=
ENST00000673058.2:c.6925C= ENSP00000500665.2:p.Gln2309=
ENST00000674712.1:n.575C=
ENST00000674889.1:n.4001C=
ENST00000674971.1:c.*5C= ENSP00000502194.1:n.*5C=
ENST00000675230.1:c.7027C= ENSP00000502503.1:p.Gln2343=
ENST00000675408.1:c.6883C= ENSP00000502298.1:p.Gln2295=
ENST00000675476.1:c.7909C= ENSP00000502161.1:p.Gln2637=
ENST00000675628.1:n.9030C=
ENST00000675794.1:c.*5219C= ENSP00000502841.1:n.*5219C=
ENST00000675833.1:c.7816C= ENSP00000502559.1:p.Gln2606=
ENST00000675894.1:n.3353C=
ENST00000676074.1:c.*5C= ENSP00000502079.1:n.*5C=
ENST00000676181.1:n.7731C=
ENST00000676190.1:n.3242C=
ENST00000676363.1:n.12774C=
XM_011538756.1:c.7918C= XP_011537058.1:p.Gln2640=
XM_011538756.3:c.7918C= XP_011537058.1:p.Gln2640=
XM_011538757.1:c.7918C= XP_011537059.1:p.Gln2640=
XM_011538757.3:c.7918C= XP_011537059.1:p.Gln2640=
XM_011538758.1:c.7915C= XP_011537060.1:p.Gln2639=
XM_011538758.3:c.7915C= XP_011537060.1:p.Gln2639=
XM_011538759.1:c.7909C= XP_011537061.1:p.Gln2637=
XM_011538759.2:c.7909C= XP_011537061.1:p.Gln2637=
XM_011538760.1:c.7795C= XP_011537062.1:p.Gln2599=
XM_011538760.2:c.7795C= XP_011537062.1:p.Gln2599=
XM_011538761.1:c.7753C= XP_011537063.1:p.Gln2585=
XM_011538761.2:c.7753C= XP_011537063.1:p.Gln2585=
XM_011538762.1:c.7150C= XP_011537064.1:p.Gln2384=
XM_011538762.3:c.7150C= XP_011537064.1:p.Gln2384=
XM_011538763.1:c.7057C= XP_011537065.1:p.Gln2353=
XM_011538763.3:c.7057C= XP_011537065.1:p.Gln2353=
XM_011538766.1:c.6379C= XP_011537068.1:p.Gln2127=
XM_011538766.3:c.6379C= XP_011537068.1:p.Gln2127=
XM_017019980.2:c.7786C= XP_016875469.1:p.Gln2596=
XM_017019981.2:c.7744C= XP_016875470.1:p.Gln2582=
XM_017019982.1:c.*5C= XP_016875471.1:n.*5C=
XM_017019983.2:c.7036C= XP_016875472.1:p.Gln2346=
XR_001748869.1:n.8179C=
XR_001748870.2:n.8014C=