Canonical Allele Identifier: CA481052501

Gene: CEP290 RLIG1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88049283T>C , CM000674.2:g.88049283T>C	GRCh38
NC_000012.11:g.88443060T>C , CM000674.1:g.88443060T>C	GRCh37
NC_000012.10:g.86967191T>C	NCBI36
NG_008417.1:g.97934A>G
NG_008417.2:g.97934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.7350A>G (CEP290)	ENSP00000308021.8:p.Lys2450=
ENST00000356891.4:c.*861T>C (RLIG1) MANE Select	ENSP00000349358.3:n.*861T>C
ENST00000547691.8:c.4310A>G (CEP290)
ENST00000552810.6:c.7341A>G (CEP290) MANE Select	ENSP00000448012.1:p.Lys2447=
ENST00000671777.2:n.1120A>G (CEP290)
ENST00000672414.2:c.*5347A>G (CEP290)	ENSP00000500729.1:n.*5347A>G
ENST00000672647.1:n.5701A>G (CEP290)
ENST00000673058.2:c.7218A>G (CEP290)	ENSP00000500665.2:p.Lys2406=
ENST00000674712.1:n.868A>G (CEP290)
ENST00000674889.1:n.4294A>G (CEP290)
ENST00000674971.1:c.*298A>G (CEP290)	ENSP00000502194.1:n.*298A>G
ENST00000675230.1:c.7320A>G (CEP290)	ENSP00000502503.1:p.Lys2440=
ENST00000675408.1:c.7176A>G (CEP290)	ENSP00000502298.1:p.Lys2392=
ENST00000675476.1:c.8202A>G (CEP290)	ENSP00000502161.1:p.Lys2734=
ENST00000675628.1:n.9323A>G (CEP290)
ENST00000675794.1:c.*5512A>G (CEP290)	ENSP00000502841.1:n.*5512A>G
ENST00000675833.1:c.8109A>G (CEP290)	ENSP00000502559.1:p.Lys2703=
ENST00000675894.1:n.3646A>G (CEP290)
ENST00000676074.1:c.*298A>G (CEP290)	ENSP00000502079.1:n.*298A>G
ENST00000676181.1:n.8024A>G (CEP290)
ENST00000676190.1:n.3535A>G (CEP290)
ENST00000676363.1:n.13067A>G (CEP290)
ENST00000309041.11:c.7347A>G (CEP290)	ENSP00000308021.7:p.Lys2449=
ENST00000356891.3:c.*861T>C (RLIG1)	ENSP00000349358.3:n.*861T>C
ENST00000547691.6:c.4521A>G (CEP290)	ENSP00000446905.1:p.Lys1507=
ENST00000550333.5:c.*1604T>C (RLIG1)	ENSP00000448194.1:n.*1604T>C
ENST00000552810.5:c.7341A>G (CEP290)	ENSP00000448012.1:p.Lys2447=
NM_001009894.2:c.*861T>C (RLIG1)	NP_001009894.2:n.*861T>C
NM_025114.3:c.7341A>G (CEP290)	NP_079390.3:p.Lys2447=
XM_011538756.1:c.8211A>G (CEP290)	XP_011537058.1:p.Lys2737=
XM_011538757.1:c.8211A>G (CEP290)	XP_011537059.1:p.Lys2737=
XM_011538758.1:c.8208A>G (CEP290)	XP_011537060.1:p.Lys2736=
XM_011538759.1:c.8202A>G (CEP290)	XP_011537061.1:p.Lys2734=
XM_011538760.1:c.8088A>G (CEP290)	XP_011537062.1:p.Lys2696=
XM_011538761.1:c.8046A>G (CEP290)	XP_011537063.1:p.Lys2682=
XM_011538762.1:c.7443A>G (CEP290)	XP_011537064.1:p.Lys2481=
XM_011538763.1:c.7350A>G (CEP290)	XP_011537065.1:p.Lys2450=
XM_011538766.1:c.6672A>G (CEP290)	XP_011537068.1:p.Lys2224=
XM_011538756.3:c.8211A>G (CEP290)	XP_011537058.1:p.Lys2737=
XM_011538757.3:c.8211A>G (CEP290)	XP_011537059.1:p.Lys2737=
XM_011538758.3:c.8208A>G (CEP290)	XP_011537060.1:p.Lys2736=
XM_011538759.2:c.8202A>G (CEP290)	XP_011537061.1:p.Lys2734=
XM_011538760.2:c.8088A>G (CEP290)	XP_011537062.1:p.Lys2696=
XM_011538761.2:c.8046A>G (CEP290)	XP_011537063.1:p.Lys2682=
XM_011538762.3:c.7443A>G (CEP290)	XP_011537064.1:p.Lys2481=
XM_011538763.3:c.7350A>G (CEP290)	XP_011537065.1:p.Lys2450=
XM_011538766.3:c.6672A>G (CEP290)	XP_011537068.1:p.Lys2224=
XM_017019980.2:c.8079A>G (CEP290)	XP_016875469.1:p.Lys2693=
XM_017019981.2:c.8037A>G (CEP290)	XP_016875470.1:p.Lys2679=
XM_017019983.2:c.7329A>G (CEP290)	XP_016875472.1:p.Lys2443=
NM_001009894.3:c.*861T>C (RLIG1) MANE Select	NP_001009894.2:n.*861T>C
NM_025114.4:c.7341A>G (CEP290) MANE Select	NP_079390.3:p.Lys2447=