Canonical Allele Identifier: CA6711377

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88054359G>A , CM000674.2:g.88054359G>A	GRCh38
NC_000012.11:g.88448136G>A , CM000674.1:g.88448136G>A	GRCh37
NC_000012.10:g.86972267G>A	NCBI36
NG_008417.1:g.92858C>T
NG_008417.2:g.92858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.7024C>T	ENSP00000308021.8:p.Arg2342Trp
ENST00000547691.8:c.3984C>T
ENST00000552810.6:c.7015C>T MANE Select	ENSP00000448012.1:p.Arg2339Trp
ENST00000671777.2:n.794C>T
ENST00000672414.2:c.*5021C>T	ENSP00000500729.1:n.*5021C>T
ENST00000672647.1:n.5375C>T
ENST00000673058.2:c.6892C>T	ENSP00000500665.2:p.Arg2298Trp
ENST00000674712.1:n.542C>T
ENST00000674889.1:n.3968C>T
ENST00000674971.1:c.6961-613C>T	ENSP00000502194.1:n.6961-613C>T
ENST00000675230.1:c.6994C>T	ENSP00000502503.1:p.Arg2332Trp
ENST00000675408.1:c.6850C>T	ENSP00000502298.1:p.Arg2284Trp
ENST00000675476.1:c.7876C>T	ENSP00000502161.1:p.Arg2626Trp
ENST00000675628.1:n.8404C>T
ENST00000675794.1:c.*5186C>T	ENSP00000502841.1:n.*5186C>T
ENST00000675833.1:c.7783C>T	ENSP00000502559.1:p.Arg2595Trp
ENST00000675894.1:n.3320C>T
ENST00000676074.1:c.6796-613C>T	ENSP00000502079.1:n.6796-613C>T
ENST00000676181.1:n.7105C>T
ENST00000676190.1:n.2616C>T
ENST00000676363.1:n.12741C>T
ENST00000309041.11:c.7021C>T	ENSP00000308021.7:p.Arg2341Trp
ENST00000547691.6:c.4195C>T	ENSP00000446905.1:p.Arg1399Trp
ENST00000552810.5:c.7015C>T	ENSP00000448012.1:p.Arg2339Trp
NM_025114.3:c.7015C>T	NP_079390.3:p.Arg2339Trp
XM_011538756.1:c.7885C>T	XP_011537058.1:p.Arg2629Trp
XM_011538757.1:c.7885C>T	XP_011537059.1:p.Arg2629Trp
XM_011538758.1:c.7882C>T	XP_011537060.1:p.Arg2628Trp
XM_011538759.1:c.7876C>T	XP_011537061.1:p.Arg2626Trp
XM_011538760.1:c.7762C>T	XP_011537062.1:p.Arg2588Trp
XM_011538761.1:c.7720C>T	XP_011537063.1:p.Arg2574Trp
XM_011538762.1:c.7117C>T	XP_011537064.1:p.Arg2373Trp
XM_011538763.1:c.7024C>T	XP_011537065.1:p.Arg2342Trp
XM_011538766.1:c.6346C>T	XP_011537068.1:p.Arg2116Trp
XM_011538756.3:c.7885C>T	XP_011537058.1:p.Arg2629Trp
XM_011538757.3:c.7885C>T	XP_011537059.1:p.Arg2629Trp
XM_011538758.3:c.7882C>T	XP_011537060.1:p.Arg2628Trp
XM_011538759.2:c.7876C>T	XP_011537061.1:p.Arg2626Trp
XM_011538760.2:c.7762C>T	XP_011537062.1:p.Arg2588Trp
XM_011538761.2:c.7720C>T	XP_011537063.1:p.Arg2574Trp
XM_011538762.3:c.7117C>T	XP_011537064.1:p.Arg2373Trp
XM_011538763.3:c.7024C>T	XP_011537065.1:p.Arg2342Trp
XM_011538766.3:c.6346C>T	XP_011537068.1:p.Arg2116Trp
XM_017019980.2:c.7753C>T	XP_016875469.1:p.Arg2585Trp
XM_017019981.2:c.7711C>T	XP_016875470.1:p.Arg2571Trp
XM_017019982.1:c.7831-613C>T	XP_016875471.1:n.7831-613C>T
XM_017019983.2:c.7003C>T	XP_016875472.1:p.Arg2335Trp
XR_001748869.1:n.8166-613C>T
XR_001748870.2:n.8001-613C>T
NM_025114.4:c.7015C>T MANE Select	NP_079390.3:p.Arg2339Trp