Canonical Allele Identifier: CA6711302
Community Standard Title: NM_001009894.3(RLIG1):c.*915A>T
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049337A>T , CM000674.2:g.88049337A>T GRCh38
NC_000012.11:g.88443114A>T , CM000674.1:g.88443114A>T GRCh37
NC_000012.10:g.86967245A>T NCBI36
NG_008417.1:g.97880T>A
NG_008417.2:g.97880T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*915A>T (RLIG1) MANE Select NP_001009894.2:n.*915A>T
NM_025114.4:c.7287T>A (CEP290) MANE Select NP_079390.3:p.Tyr2429Ter
ENST00000356891.4:c.*915A>T (RLIG1) MANE Select ENSP00000349358.3:n.*915A>T
ENST00000552810.6:c.7287T>A (CEP290) MANE Select ENSP00000448012.1:p.Tyr2429Ter
NM_001009894.2:c.*915A>T (RLIG1) NP_001009894.2:n.*915A>T
NM_025114.3:c.7287T>A (CEP290) NP_079390.3:p.Tyr2429Ter
ENST00000309041.11:c.7293T>A (CEP290) ENSP00000308021.7:p.Tyr2431Ter
ENST00000309041.12:c.7296T>A (CEP290) ENSP00000308021.8:p.Tyr2432Ter
ENST00000356891.3:c.*915A>T (RLIG1) ENSP00000349358.3:n.*915A>T
ENST00000547691.6:c.4467T>A (CEP290) ENSP00000446905.1:p.Tyr1489Ter
ENST00000547691.8:c.4256T>A (CEP290)
ENST00000550333.5:c.*1658A>T (RLIG1) ENSP00000448194.1:n.*1658A>T
ENST00000552810.5:c.7287T>A (CEP290) ENSP00000448012.1:p.Tyr2429Ter
ENST00000671777.2:n.1066T>A (CEP290)
ENST00000672414.2:c.*5293T>A (CEP290) ENSP00000500729.1:n.*5293T>A
ENST00000672647.1:n.5647T>A (CEP290)
ENST00000673058.2:c.7164T>A (CEP290) ENSP00000500665.2:p.Tyr2388Ter
ENST00000674712.1:n.814T>A (CEP290)
ENST00000674889.1:n.4240T>A (CEP290)
ENST00000674971.1:c.*244T>A (CEP290) ENSP00000502194.1:n.*244T>A
ENST00000675230.1:c.7266T>A (CEP290) ENSP00000502503.1:p.Tyr2422Ter
ENST00000675408.1:c.7122T>A (CEP290) ENSP00000502298.1:p.Tyr2374Ter
ENST00000675476.1:c.8148T>A (CEP290) ENSP00000502161.1:p.Tyr2716Ter
ENST00000675628.1:n.9269T>A (CEP290)
ENST00000675794.1:c.*5458T>A (CEP290) ENSP00000502841.1:n.*5458T>A
ENST00000675833.1:c.8055T>A (CEP290) ENSP00000502559.1:p.Tyr2685Ter
ENST00000675894.1:n.3592T>A (CEP290)
ENST00000676074.1:c.*244T>A (CEP290) ENSP00000502079.1:n.*244T>A
ENST00000676181.1:n.7970T>A (CEP290)
ENST00000676190.1:n.3481T>A (CEP290)
ENST00000676363.1:n.13013T>A (CEP290)
XM_011538756.1:c.8157T>A (CEP290) XP_011537058.1:p.Tyr2719Ter
XM_011538756.3:c.8157T>A (CEP290) XP_011537058.1:p.Tyr2719Ter
XM_011538757.1:c.8157T>A (CEP290) XP_011537059.1:p.Tyr2719Ter
XM_011538757.3:c.8157T>A (CEP290) XP_011537059.1:p.Tyr2719Ter
XM_011538758.1:c.8154T>A (CEP290) XP_011537060.1:p.Tyr2718Ter
XM_011538758.3:c.8154T>A (CEP290) XP_011537060.1:p.Tyr2718Ter
XM_011538759.1:c.8148T>A (CEP290) XP_011537061.1:p.Tyr2716Ter
XM_011538759.2:c.8148T>A (CEP290) XP_011537061.1:p.Tyr2716Ter
XM_011538760.1:c.8034T>A (CEP290) XP_011537062.1:p.Tyr2678Ter
XM_011538760.2:c.8034T>A (CEP290) XP_011537062.1:p.Tyr2678Ter
XM_011538761.1:c.7992T>A (CEP290) XP_011537063.1:p.Tyr2664Ter
XM_011538761.2:c.7992T>A (CEP290) XP_011537063.1:p.Tyr2664Ter
XM_011538762.1:c.7389T>A (CEP290) XP_011537064.1:p.Tyr2463Ter
XM_011538762.3:c.7389T>A (CEP290) XP_011537064.1:p.Tyr2463Ter
XM_011538763.1:c.7296T>A (CEP290) XP_011537065.1:p.Tyr2432Ter
XM_011538763.3:c.7296T>A (CEP290) XP_011537065.1:p.Tyr2432Ter
XM_011538766.1:c.6618T>A (CEP290) XP_011537068.1:p.Tyr2206Ter
XM_011538766.3:c.6618T>A (CEP290) XP_011537068.1:p.Tyr2206Ter
XM_017019980.2:c.8025T>A (CEP290) XP_016875469.1:p.Tyr2675Ter
XM_017019981.2:c.7983T>A (CEP290) XP_016875470.1:p.Tyr2661Ter
XM_017019983.2:c.7275T>A (CEP290) XP_016875472.1:p.Tyr2425Ter
XR_001748869.1:n.8418T>A (CEP290)
XR_001748870.2:n.8253T>A (CEP290)