Canonical Allele Identifier: CA2052902175
Community Standard Title: NM_025114.4(CEP290):c.5182G= (p.Glu1728=)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88080226C= , CM000674.2:g.88080226C= GRCh38
NC_000012.11:g.88474003C= , CM000674.1:g.88474003C= GRCh37
NC_000012.10:g.86998134C= NCBI36
NG_008417.1:g.66991G=
NG_008417.2:g.66991G=

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.5182G= MANE Select NP_079390.3:p.Glu1728=
ENST00000552810.6:c.5182G= MANE Select ENSP00000448012.1:p.Glu1728=
NM_025114.3:c.5182G= NP_079390.3:p.Glu1728=
ENST00000309041.11:c.5188G= ENSP00000308021.7:p.Glu1730=
ENST00000309041.12:c.5182G= ENSP00000308021.8:p.Glu1728=
ENST00000547691.6:c.2362G= ENSP00000446905.1:p.Glu788=
ENST00000547691.8:c.2466G=
ENST00000552810.5:c.5182G= ENSP00000448012.1:p.Glu1728=
ENST00000672414.2:c.*3353G= ENSP00000500729.1:n.*3353G=
ENST00000672647.1:n.3542G=
ENST00000673058.2:c.5182G= ENSP00000500665.2:p.Glu1728=
ENST00000674971.1:c.5182G= ENSP00000502194.1:p.Glu1728=
ENST00000675230.1:c.5161G= ENSP00000502503.1:p.Glu1721=
ENST00000675408.1:c.5182G= ENSP00000502298.1:p.Glu1728=
ENST00000675476.1:c.6043G= ENSP00000502161.1:p.Glu2015=
ENST00000675628.1:n.5409G=
ENST00000675794.1:c.*3353G= ENSP00000502841.1:n.*3353G=
ENST00000675833.1:c.5950G= ENSP00000502559.1:p.Glu1984=
ENST00000675894.1:n.1487G=
ENST00000676074.1:c.5182G= ENSP00000502079.1:p.Glu1728=
ENST00000676181.1:n.4110G=
ENST00000676363.1:n.10908G=
ENST00000676448.1:c.*3095G= ENSP00000501987.1:n.*3095G=
XM_011538756.1:c.6043G= XP_011537058.1:p.Glu2015=
XM_011538756.3:c.6043G= XP_011537058.1:p.Glu2015=
XM_011538757.1:c.6043G= XP_011537059.1:p.Glu2015=
XM_011538757.3:c.6043G= XP_011537059.1:p.Glu2015=
XM_011538758.1:c.6043G= XP_011537060.1:p.Glu2015=
XM_011538758.3:c.6043G= XP_011537060.1:p.Glu2015=
XM_011538759.1:c.6043G= XP_011537061.1:p.Glu2015=
XM_011538759.2:c.6043G= XP_011537061.1:p.Glu2015=
XM_011538760.1:c.6043G= XP_011537062.1:p.Glu2015=
XM_011538760.2:c.6043G= XP_011537062.1:p.Glu2015=
XM_011538761.1:c.6043G= XP_011537063.1:p.Glu2015=
XM_011538761.2:c.6043G= XP_011537063.1:p.Glu2015=
XM_011538762.1:c.5275G= XP_011537064.1:p.Glu1759=
XM_011538762.3:c.5275G= XP_011537064.1:p.Glu1759=
XM_011538763.1:c.5182G= XP_011537065.1:p.Glu1728=
XM_011538763.3:c.5182G= XP_011537065.1:p.Glu1728=
XM_011538764.1:c.6043G= XP_011537066.1:p.Glu2015=
XM_011538764.3:c.6043G= XP_011537066.1:p.Glu2015=
XM_011538765.1:c.6043G= XP_011537067.1:p.Glu2015=
XM_011538765.3:c.6043G= XP_011537067.1:p.Glu2015=
XM_011538766.1:c.4504G= XP_011537068.1:p.Glu1502=
XM_011538766.3:c.4504G= XP_011537068.1:p.Glu1502=
XM_017019980.2:c.6043G= XP_016875469.1:p.Glu2015=
XM_017019981.2:c.6043G= XP_016875470.1:p.Glu2015=
XM_017019982.1:c.6043G= XP_016875471.1:p.Glu2015=
XM_017019983.2:c.5161G= XP_016875472.1:p.Glu1721=
XR_001748869.1:n.6387G=
XR_001748870.2:n.6387G=
XR_945163.1:n.968-2087C=