Canonical Allele Identifier: CA385973088

Gene: CEP290 RLIG1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88049368G>C , CM000674.2:g.88049368G>C	GRCh38
NC_000012.11:g.88443145G>C , CM000674.1:g.88443145G>C	GRCh37
NC_000012.10:g.86967276G>C	NCBI36
NG_008417.1:g.97849C>G
NG_008417.2:g.97849C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001009894.3:c.*946G>C (RLIG1) MANE Select	NP_001009894.2:n.*946G>C
NM_025114.4:c.7256C>G (CEP290) MANE Select	NP_079390.3:p.Ser2419Ter
ENST00000356891.4:c.*946G>C (RLIG1) MANE Select	ENSP00000349358.3:n.*946G>C
ENST00000552810.6:c.7256C>G (CEP290) MANE Select	ENSP00000448012.1:p.Ser2419Ter
NM_001009894.2:c.*946G>C (RLIG1)	NP_001009894.2:n.*946G>C
NM_025114.3:c.7256C>G (CEP290)	NP_079390.3:p.Ser2419Ter
ENST00000309041.11:c.7262C>G (CEP290)	ENSP00000308021.7:p.Ser2421Ter
ENST00000309041.12:c.7265C>G (CEP290)	ENSP00000308021.8:p.Ser2422Ter
ENST00000356891.3:c.*946G>C (RLIG1)	ENSP00000349358.3:n.*946G>C
ENST00000547691.6:c.4436C>G (CEP290)	ENSP00000446905.1:p.Ser1479Ter
ENST00000547691.8:c.4225C>G (CEP290)
ENST00000550333.5:c.*1689G>C (RLIG1)	ENSP00000448194.1:n.*1689G>C
ENST00000552810.5:c.7256C>G (CEP290)	ENSP00000448012.1:p.Ser2419Ter
ENST00000671777.2:n.1035C>G (CEP290)
ENST00000672414.2:c.*5262C>G (CEP290)	ENSP00000500729.1:n.*5262C>G
ENST00000672647.1:n.5616C>G (CEP290)
ENST00000673058.2:c.7133C>G (CEP290)	ENSP00000500665.2:p.Ser2378Ter
ENST00000674712.1:n.783C>G (CEP290)
ENST00000674889.1:n.4209C>G (CEP290)
ENST00000674971.1:c.*213C>G (CEP290)	ENSP00000502194.1:n.*213C>G
ENST00000675230.1:c.7235C>G (CEP290)	ENSP00000502503.1:p.Ser2412Ter
ENST00000675408.1:c.7091C>G (CEP290)	ENSP00000502298.1:p.Ser2364Ter
ENST00000675476.1:c.8117C>G (CEP290)	ENSP00000502161.1:p.Ser2706Ter
ENST00000675628.1:n.9238C>G (CEP290)
ENST00000675794.1:c.*5427C>G (CEP290)	ENSP00000502841.1:n.*5427C>G
ENST00000675833.1:c.8024C>G (CEP290)	ENSP00000502559.1:p.Ser2675Ter
ENST00000675894.1:n.3561C>G (CEP290)
ENST00000676074.1:c.*213C>G (CEP290)	ENSP00000502079.1:n.*213C>G
ENST00000676181.1:n.7939C>G (CEP290)
ENST00000676190.1:n.3450C>G (CEP290)
ENST00000676363.1:n.12982C>G (CEP290)
XM_011538756.1:c.8126C>G (CEP290)	XP_011537058.1:p.Ser2709Ter
XM_011538756.3:c.8126C>G (CEP290)	XP_011537058.1:p.Ser2709Ter
XM_011538757.1:c.8126C>G (CEP290)	XP_011537059.1:p.Ser2709Ter
XM_011538757.3:c.8126C>G (CEP290)	XP_011537059.1:p.Ser2709Ter
XM_011538758.1:c.8123C>G (CEP290)	XP_011537060.1:p.Ser2708Ter
XM_011538758.3:c.8123C>G (CEP290)	XP_011537060.1:p.Ser2708Ter
XM_011538759.1:c.8117C>G (CEP290)	XP_011537061.1:p.Ser2706Ter
XM_011538759.2:c.8117C>G (CEP290)	XP_011537061.1:p.Ser2706Ter
XM_011538760.1:c.8003C>G (CEP290)	XP_011537062.1:p.Ser2668Ter
XM_011538760.2:c.8003C>G (CEP290)	XP_011537062.1:p.Ser2668Ter
XM_011538761.1:c.7961C>G (CEP290)	XP_011537063.1:p.Ser2654Ter
XM_011538761.2:c.7961C>G (CEP290)	XP_011537063.1:p.Ser2654Ter
XM_011538762.1:c.7358C>G (CEP290)	XP_011537064.1:p.Ser2453Ter
XM_011538762.3:c.7358C>G (CEP290)	XP_011537064.1:p.Ser2453Ter
XM_011538763.1:c.7265C>G (CEP290)	XP_011537065.1:p.Ser2422Ter
XM_011538763.3:c.7265C>G (CEP290)	XP_011537065.1:p.Ser2422Ter
XM_011538766.1:c.6587C>G (CEP290)	XP_011537068.1:p.Ser2196Ter
XM_011538766.3:c.6587C>G (CEP290)	XP_011537068.1:p.Ser2196Ter
XM_017019980.2:c.7994C>G (CEP290)	XP_016875469.1:p.Ser2665Ter
XM_017019981.2:c.7952C>G (CEP290)	XP_016875470.1:p.Ser2651Ter
XM_017019983.2:c.7244C>G (CEP290)	XP_016875472.1:p.Ser2415Ter
XR_001748869.1:n.8387C>G (CEP290)
XR_001748870.2:n.8222C>G (CEP290)