Canonical Allele Identifier: CA251753
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1345
dbSNP Id: rs267606719

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88077227C>A , CM000674.2:g.88077227C>A GRCh38
NC_000012.11:g.88471004C>A , CM000674.1:g.88471004C>A GRCh37
NC_000012.10:g.86995135C>A NCBI36
NG_008417.1:g.69990G>T
NG_008417.2:g.69990G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000309041.12:c.5704G>T ENSP00000308021.8:p.Glu1902Ter
ENST00000547691.8:c.2988G>T
ENST00000552810.6:c.5704G>T MANE Select ENSP00000448012.1:p.Glu1902Ter
ENST00000672414.2:c.*3875G>T ENSP00000500729.1:n.*3875G>T
ENST00000672647.1:n.4064G>T
ENST00000673058.2:c.5704G>T ENSP00000500665.2:p.Glu1902Ter
ENST00000674971.1:c.5704G>T ENSP00000502194.1:p.Glu1902Ter
ENST00000675230.1:c.5683G>T ENSP00000502503.1:p.Glu1895Ter
ENST00000675408.1:c.5704G>T ENSP00000502298.1:p.Glu1902Ter
ENST00000675476.1:c.6565G>T ENSP00000502161.1:p.Glu2189Ter
ENST00000675628.1:n.5931G>T
ENST00000675794.1:c.*3875G>T ENSP00000502841.1:n.*3875G>T
ENST00000675833.1:c.6472G>T ENSP00000502559.1:p.Glu2158Ter
ENST00000675894.1:n.2009G>T
ENST00000676074.1:c.5704G>T ENSP00000502079.1:p.Glu1902Ter
ENST00000676181.1:n.4632G>T
ENST00000676363.1:n.11430G>T
ENST00000676448.1:c.*3617G>T ENSP00000501987.1:n.*3617G>T
ENST00000309041.11:c.5710G>T ENSP00000308021.7:p.Glu1904Ter
ENST00000547691.6:c.2884G>T ENSP00000446905.1:p.Glu962Ter
ENST00000552810.5:c.5704G>T ENSP00000448012.1:p.Glu1902Ter
NM_025114.3:c.5704G>T NP_079390.3:p.Glu1902Ter
XM_011538756.1:c.6565G>T XP_011537058.1:p.Glu2189Ter
XM_011538757.1:c.6565G>T XP_011537059.1:p.Glu2189Ter
XM_011538758.1:c.6565G>T XP_011537060.1:p.Glu2189Ter
XM_011538759.1:c.6565G>T XP_011537061.1:p.Glu2189Ter
XM_011538760.1:c.6565G>T XP_011537062.1:p.Glu2189Ter
XM_011538761.1:c.6565G>T XP_011537063.1:p.Glu2189Ter
XM_011538762.1:c.5797G>T XP_011537064.1:p.Glu1933Ter
XM_011538763.1:c.5704G>T XP_011537065.1:p.Glu1902Ter
XM_011538764.1:c.6565G>T XP_011537066.1:p.Glu2189Ter
XM_011538765.1:c.6565G>T XP_011537067.1:p.Glu2189Ter
XM_011538766.1:c.5026G>T XP_011537068.1:p.Glu1676Ter
XR_945163.1:n.968-5086C>A
XM_011538756.3:c.6565G>T XP_011537058.1:p.Glu2189Ter
XM_011538757.3:c.6565G>T XP_011537059.1:p.Glu2189Ter
XM_011538758.3:c.6565G>T XP_011537060.1:p.Glu2189Ter
XM_011538759.2:c.6565G>T XP_011537061.1:p.Glu2189Ter
XM_011538760.2:c.6565G>T XP_011537062.1:p.Glu2189Ter
XM_011538761.2:c.6565G>T XP_011537063.1:p.Glu2189Ter
XM_011538762.3:c.5797G>T XP_011537064.1:p.Glu1933Ter
XM_011538763.3:c.5704G>T XP_011537065.1:p.Glu1902Ter
XM_011538764.3:c.6565G>T XP_011537066.1:p.Glu2189Ter
XM_011538765.3:c.6565G>T XP_011537067.1:p.Glu2189Ter
XM_011538766.3:c.5026G>T XP_011537068.1:p.Glu1676Ter
XM_017019980.2:c.6565G>T XP_016875469.1:p.Glu2189Ter
XM_017019981.2:c.6565G>T XP_016875470.1:p.Glu2189Ter
XM_017019982.1:c.6565G>T XP_016875471.1:p.Glu2189Ter
XM_017019983.2:c.5683G>T XP_016875472.1:p.Glu1895Ter
XR_001748869.1:n.6909G>T
XR_001748870.2:n.6909G>T
NM_025114.4:c.5704G>T MANE Select NP_079390.3:p.Glu1902Ter