Canonical Allele Identifier: CA6711294
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049310A>G , CM000674.2:g.88049310A>G GRCh38
NC_000012.11:g.88443087A>G , CM000674.1:g.88443087A>G GRCh37
NC_000012.10:g.86967218A>G NCBI36
NG_008417.1:g.97907T>C
NG_008417.2:g.97907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.7323T>C (CEP290) ENSP00000308021.8:p.Asn2441=
ENST00000356891.4:c.*888A>G (RLIG1) MANE Select ENSP00000349358.3:n.*888A>G
ENST00000547691.8:c.4283T>C (CEP290)
ENST00000552810.6:c.7314T>C (CEP290) MANE Select ENSP00000448012.1:p.Asn2438=
ENST00000671777.2:n.1093T>C (CEP290)
ENST00000672414.2:c.*5320T>C (CEP290) ENSP00000500729.1:n.*5320T>C
ENST00000672647.1:n.5674T>C (CEP290)
ENST00000673058.2:c.7191T>C (CEP290) ENSP00000500665.2:p.Asn2397=
ENST00000674712.1:n.841T>C (CEP290)
ENST00000674889.1:n.4267T>C (CEP290)
ENST00000674971.1:c.*271T>C (CEP290) ENSP00000502194.1:n.*271T>C
ENST00000675230.1:c.7293T>C (CEP290) ENSP00000502503.1:p.Asn2431=
ENST00000675408.1:c.7149T>C (CEP290) ENSP00000502298.1:p.Asn2383=
ENST00000675476.1:c.8175T>C (CEP290) ENSP00000502161.1:p.Asn2725=
ENST00000675628.1:n.9296T>C (CEP290)
ENST00000675794.1:c.*5485T>C (CEP290) ENSP00000502841.1:n.*5485T>C
ENST00000675833.1:c.8082T>C (CEP290) ENSP00000502559.1:p.Asn2694=
ENST00000675894.1:n.3619T>C (CEP290)
ENST00000676074.1:c.*271T>C (CEP290) ENSP00000502079.1:n.*271T>C
ENST00000676181.1:n.7997T>C (CEP290)
ENST00000676190.1:n.3508T>C (CEP290)
ENST00000676363.1:n.13040T>C (CEP290)
ENST00000309041.11:c.7320T>C (CEP290) ENSP00000308021.7:p.Asn2440=
ENST00000356891.3:c.*888A>G (RLIG1) ENSP00000349358.3:n.*888A>G
ENST00000547691.6:c.4494T>C (CEP290) ENSP00000446905.1:p.Asn1498=
ENST00000550333.5:c.*1631A>G (RLIG1) ENSP00000448194.1:n.*1631A>G
ENST00000552810.5:c.7314T>C (CEP290) ENSP00000448012.1:p.Asn2438=
NM_001009894.2:c.*888A>G (RLIG1) NP_001009894.2:n.*888A>G
NM_025114.3:c.7314T>C (CEP290) NP_079390.3:p.Asn2438=
XM_011538756.1:c.8184T>C (CEP290) XP_011537058.1:p.Asn2728=
XM_011538757.1:c.8184T>C (CEP290) XP_011537059.1:p.Asn2728=
XM_011538758.1:c.8181T>C (CEP290) XP_011537060.1:p.Asn2727=
XM_011538759.1:c.8175T>C (CEP290) XP_011537061.1:p.Asn2725=
XM_011538760.1:c.8061T>C (CEP290) XP_011537062.1:p.Asn2687=
XM_011538761.1:c.8019T>C (CEP290) XP_011537063.1:p.Asn2673=
XM_011538762.1:c.7416T>C (CEP290) XP_011537064.1:p.Asn2472=
XM_011538763.1:c.7323T>C (CEP290) XP_011537065.1:p.Asn2441=
XM_011538766.1:c.6645T>C (CEP290) XP_011537068.1:p.Asn2215=
XM_011538756.3:c.8184T>C (CEP290) XP_011537058.1:p.Asn2728=
XM_011538757.3:c.8184T>C (CEP290) XP_011537059.1:p.Asn2728=
XM_011538758.3:c.8181T>C (CEP290) XP_011537060.1:p.Asn2727=
XM_011538759.2:c.8175T>C (CEP290) XP_011537061.1:p.Asn2725=
XM_011538760.2:c.8061T>C (CEP290) XP_011537062.1:p.Asn2687=
XM_011538761.2:c.8019T>C (CEP290) XP_011537063.1:p.Asn2673=
XM_011538762.3:c.7416T>C (CEP290) XP_011537064.1:p.Asn2472=
XM_011538763.3:c.7323T>C (CEP290) XP_011537065.1:p.Asn2441=
XM_011538766.3:c.6645T>C (CEP290) XP_011537068.1:p.Asn2215=
XM_017019980.2:c.8052T>C (CEP290) XP_016875469.1:p.Asn2684=
XM_017019981.2:c.8010T>C (CEP290) XP_016875470.1:p.Asn2670=
XM_017019983.2:c.7302T>C (CEP290) XP_016875472.1:p.Asn2434=
NM_001009894.3:c.*888A>G (RLIG1) MANE Select NP_001009894.2:n.*888A>G
NM_025114.4:c.7314T>C (CEP290) MANE Select NP_079390.3:p.Asn2438=