Canonical Allele Identifier: CA385973399
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049411C>T , CM000674.2:g.88049411C>T GRCh38
NC_000012.11:g.88443188C>T , CM000674.1:g.88443188C>T GRCh37
NC_000012.10:g.86967319C>T NCBI36
NG_008417.1:g.97806G>A
NG_008417.2:g.97806G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*989C>T (RLIG1) MANE Select NP_001009894.2:n.*989C>T
NM_025114.4:c.7213G>A (CEP290) MANE Select NP_079390.3:p.Glu2405Lys
ENST00000356891.4:c.*989C>T (RLIG1) MANE Select ENSP00000349358.3:n.*989C>T
ENST00000552810.6:c.7213G>A (CEP290) MANE Select ENSP00000448012.1:p.Glu2405Lys
NM_001009894.2:c.*989C>T (RLIG1) NP_001009894.2:n.*989C>T
NM_025114.3:c.7213G>A (CEP290) NP_079390.3:p.Glu2405Lys
ENST00000309041.11:c.7219G>A (CEP290) ENSP00000308021.7:p.Glu2407Lys
ENST00000309041.12:c.7222G>A (CEP290) ENSP00000308021.8:p.Glu2408Lys
ENST00000356891.3:c.*989C>T (RLIG1) ENSP00000349358.3:n.*989C>T
ENST00000547691.6:c.4393G>A (CEP290) ENSP00000446905.1:p.Glu1465Lys
ENST00000547691.8:c.4182G>A (CEP290)
ENST00000550333.5:c.*1732C>T (RLIG1) ENSP00000448194.1:n.*1732C>T
ENST00000552810.5:c.7213G>A (CEP290) ENSP00000448012.1:p.Glu2405Lys
ENST00000671777.2:n.992G>A (CEP290)
ENST00000672414.2:c.*5219G>A (CEP290) ENSP00000500729.1:n.*5219G>A
ENST00000672647.1:n.5573G>A (CEP290)
ENST00000673058.2:c.7090G>A (CEP290) ENSP00000500665.2:p.Glu2364Lys
ENST00000674712.1:n.740G>A (CEP290)
ENST00000674889.1:n.4166G>A (CEP290)
ENST00000674971.1:c.*170G>A (CEP290) ENSP00000502194.1:n.*170G>A
ENST00000675230.1:c.7192G>A (CEP290) ENSP00000502503.1:p.Glu2398Lys
ENST00000675408.1:c.7048G>A (CEP290) ENSP00000502298.1:p.Glu2350Lys
ENST00000675476.1:c.8074G>A (CEP290) ENSP00000502161.1:p.Glu2692Lys
ENST00000675628.1:n.9195G>A (CEP290)
ENST00000675794.1:c.*5384G>A (CEP290) ENSP00000502841.1:n.*5384G>A
ENST00000675833.1:c.7981G>A (CEP290) ENSP00000502559.1:p.Glu2661Lys
ENST00000675894.1:n.3518G>A (CEP290)
ENST00000676074.1:c.*170G>A (CEP290) ENSP00000502079.1:n.*170G>A
ENST00000676181.1:n.7896G>A (CEP290)
ENST00000676190.1:n.3407G>A (CEP290)
ENST00000676363.1:n.12939G>A (CEP290)
XM_011538756.1:c.8083G>A (CEP290) XP_011537058.1:p.Glu2695Lys
XM_011538756.3:c.8083G>A (CEP290) XP_011537058.1:p.Glu2695Lys
XM_011538757.1:c.8083G>A (CEP290) XP_011537059.1:p.Glu2695Lys
XM_011538757.3:c.8083G>A (CEP290) XP_011537059.1:p.Glu2695Lys
XM_011538758.1:c.8080G>A (CEP290) XP_011537060.1:p.Glu2694Lys
XM_011538758.3:c.8080G>A (CEP290) XP_011537060.1:p.Glu2694Lys
XM_011538759.1:c.8074G>A (CEP290) XP_011537061.1:p.Glu2692Lys
XM_011538759.2:c.8074G>A (CEP290) XP_011537061.1:p.Glu2692Lys
XM_011538760.1:c.7960G>A (CEP290) XP_011537062.1:p.Glu2654Lys
XM_011538760.2:c.7960G>A (CEP290) XP_011537062.1:p.Glu2654Lys
XM_011538761.1:c.7918G>A (CEP290) XP_011537063.1:p.Glu2640Lys
XM_011538761.2:c.7918G>A (CEP290) XP_011537063.1:p.Glu2640Lys
XM_011538762.1:c.7315G>A (CEP290) XP_011537064.1:p.Glu2439Lys
XM_011538762.3:c.7315G>A (CEP290) XP_011537064.1:p.Glu2439Lys
XM_011538763.1:c.7222G>A (CEP290) XP_011537065.1:p.Glu2408Lys
XM_011538763.3:c.7222G>A (CEP290) XP_011537065.1:p.Glu2408Lys
XM_011538766.1:c.6544G>A (CEP290) XP_011537068.1:p.Glu2182Lys
XM_011538766.3:c.6544G>A (CEP290) XP_011537068.1:p.Glu2182Lys
XM_017019980.2:c.7951G>A (CEP290) XP_016875469.1:p.Glu2651Lys
XM_017019981.2:c.7909G>A (CEP290) XP_016875470.1:p.Glu2637Lys
XM_017019983.2:c.7201G>A (CEP290) XP_016875472.1:p.Glu2401Lys
XR_001748869.1:n.8344G>A (CEP290)
XR_001748870.2:n.8179G>A (CEP290)