Canonical Allele Identifier: CA385987543
Gene: CEP290 HGNC NCBI

Linked Data

dbSNP Id: rs1229896930

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88077276C>G , CM000674.2:g.88077276C>G GRCh38
NC_000012.11:g.88471053C>G , CM000674.1:g.88471053C>G GRCh37
NC_000012.10:g.86995184C>G NCBI36
NG_008417.1:g.69941G>C
NG_008417.2:g.69941G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309041.12:c.5655G>C ENSP00000308021.8:p.Glu1885Asp
ENST00000547691.8:c.2939G>C
ENST00000552810.6:c.5655G>C MANE Select ENSP00000448012.1:p.Glu1885Asp
ENST00000672414.2:c.*3826G>C ENSP00000500729.1:n.*3826G>C
ENST00000672647.1:n.4015G>C
ENST00000673058.2:c.5655G>C ENSP00000500665.2:p.Glu1885Asp
ENST00000674971.1:c.5655G>C ENSP00000502194.1:p.Glu1885Asp
ENST00000675230.1:c.5634G>C ENSP00000502503.1:p.Glu1878Asp
ENST00000675408.1:c.5655G>C ENSP00000502298.1:p.Glu1885Asp
ENST00000675476.1:c.6516G>C ENSP00000502161.1:p.Glu2172Asp
ENST00000675628.1:n.5882G>C
ENST00000675794.1:c.*3826G>C ENSP00000502841.1:n.*3826G>C
ENST00000675833.1:c.6423G>C ENSP00000502559.1:p.Glu2141Asp
ENST00000675894.1:n.1960G>C
ENST00000676074.1:c.5655G>C ENSP00000502079.1:p.Glu1885Asp
ENST00000676181.1:n.4583G>C
ENST00000676363.1:n.11381G>C
ENST00000676448.1:c.*3568G>C ENSP00000501987.1:n.*3568G>C
ENST00000309041.11:c.5661G>C ENSP00000308021.7:p.Glu1887Asp
ENST00000547691.6:c.2835G>C ENSP00000446905.1:p.Glu945Asp
ENST00000552810.5:c.5655G>C ENSP00000448012.1:p.Glu1885Asp
NM_025114.3:c.5655G>C NP_079390.3:p.Glu1885Asp
XM_011538756.1:c.6516G>C XP_011537058.1:p.Glu2172Asp
XM_011538757.1:c.6516G>C XP_011537059.1:p.Glu2172Asp
XM_011538758.1:c.6516G>C XP_011537060.1:p.Glu2172Asp
XM_011538759.1:c.6516G>C XP_011537061.1:p.Glu2172Asp
XM_011538760.1:c.6516G>C XP_011537062.1:p.Glu2172Asp
XM_011538761.1:c.6516G>C XP_011537063.1:p.Glu2172Asp
XM_011538762.1:c.5748G>C XP_011537064.1:p.Glu1916Asp
XM_011538763.1:c.5655G>C XP_011537065.1:p.Glu1885Asp
XM_011538764.1:c.6516G>C XP_011537066.1:p.Glu2172Asp
XM_011538765.1:c.6516G>C XP_011537067.1:p.Glu2172Asp
XM_011538766.1:c.4977G>C XP_011537068.1:p.Glu1659Asp
XR_945163.1:n.968-5037C>G
XM_011538756.3:c.6516G>C XP_011537058.1:p.Glu2172Asp
XM_011538757.3:c.6516G>C XP_011537059.1:p.Glu2172Asp
XM_011538758.3:c.6516G>C XP_011537060.1:p.Glu2172Asp
XM_011538759.2:c.6516G>C XP_011537061.1:p.Glu2172Asp
XM_011538760.2:c.6516G>C XP_011537062.1:p.Glu2172Asp
XM_011538761.2:c.6516G>C XP_011537063.1:p.Glu2172Asp
XM_011538762.3:c.5748G>C XP_011537064.1:p.Glu1916Asp
XM_011538763.3:c.5655G>C XP_011537065.1:p.Glu1885Asp
XM_011538764.3:c.6516G>C XP_011537066.1:p.Glu2172Asp
XM_011538765.3:c.6516G>C XP_011537067.1:p.Glu2172Asp
XM_011538766.3:c.4977G>C XP_011537068.1:p.Glu1659Asp
XM_017019980.2:c.6516G>C XP_016875469.1:p.Glu2172Asp
XM_017019981.2:c.6516G>C XP_016875470.1:p.Glu2172Asp
XM_017019982.1:c.6516G>C XP_016875471.1:p.Glu2172Asp
XM_017019983.2:c.5634G>C XP_016875472.1:p.Glu1878Asp
XR_001748869.1:n.6860G>C
XR_001748870.2:n.6860G>C
NM_025114.4:c.5655G>C MANE Select NP_079390.3:p.Glu1885Asp