Canonical Allele Identifier: CA385987592

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2040707
• ClinVar RCV Id: RCV002912671
• MyVariant Identifiers: chr12:g.88471060T>G (hg19) ; chr12:g.88077283T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077283T>G , CM000674.2:g.88077283T>G	GRCh38
NC_000012.11:g.88471060T>G , CM000674.1:g.88471060T>G	GRCh37
NC_000012.10:g.86995191T>G	NCBI36
NG_008417.1:g.69934A>C
NG_008417.2:g.69934A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5648A>C	ENSP00000308021.8:p.Lys1883Thr
ENST00000547691.8:c.2932A>C
ENST00000552810.6:c.5648A>C MANE Select	ENSP00000448012.1:p.Lys1883Thr
ENST00000672414.2:c.*3819A>C	ENSP00000500729.1:n.*3819A>C
ENST00000672647.1:n.4008A>C
ENST00000673058.2:c.5648A>C	ENSP00000500665.2:p.Lys1883Thr
ENST00000674971.1:c.5648A>C	ENSP00000502194.1:p.Lys1883Thr
ENST00000675230.1:c.5627A>C	ENSP00000502503.1:p.Lys1876Thr
ENST00000675408.1:c.5648A>C	ENSP00000502298.1:p.Lys1883Thr
ENST00000675476.1:c.6509A>C	ENSP00000502161.1:p.Lys2170Thr
ENST00000675628.1:n.5875A>C
ENST00000675794.1:c.*3819A>C	ENSP00000502841.1:n.*3819A>C
ENST00000675833.1:c.6416A>C	ENSP00000502559.1:p.Lys2139Thr
ENST00000675894.1:n.1953A>C
ENST00000676074.1:c.5648A>C	ENSP00000502079.1:p.Lys1883Thr
ENST00000676181.1:n.4576A>C
ENST00000676363.1:n.11374A>C
ENST00000676448.1:c.*3561A>C	ENSP00000501987.1:n.*3561A>C
ENST00000309041.11:c.5654A>C	ENSP00000308021.7:p.Lys1885Thr
ENST00000547691.6:c.2828A>C	ENSP00000446905.1:p.Lys943Thr
ENST00000552810.5:c.5648A>C	ENSP00000448012.1:p.Lys1883Thr
NM_025114.3:c.5648A>C	NP_079390.3:p.Lys1883Thr
XM_011538756.1:c.6509A>C	XP_011537058.1:p.Lys2170Thr
XM_011538757.1:c.6509A>C	XP_011537059.1:p.Lys2170Thr
XM_011538758.1:c.6509A>C	XP_011537060.1:p.Lys2170Thr
XM_011538759.1:c.6509A>C	XP_011537061.1:p.Lys2170Thr
XM_011538760.1:c.6509A>C	XP_011537062.1:p.Lys2170Thr
XM_011538761.1:c.6509A>C	XP_011537063.1:p.Lys2170Thr
XM_011538762.1:c.5741A>C	XP_011537064.1:p.Lys1914Thr
XM_011538763.1:c.5648A>C	XP_011537065.1:p.Lys1883Thr
XM_011538764.1:c.6509A>C	XP_011537066.1:p.Lys2170Thr
XM_011538765.1:c.6509A>C	XP_011537067.1:p.Lys2170Thr
XM_011538766.1:c.4970A>C	XP_011537068.1:p.Lys1657Thr
XR_945163.1:n.968-5030T>G
XM_011538756.3:c.6509A>C	XP_011537058.1:p.Lys2170Thr
XM_011538757.3:c.6509A>C	XP_011537059.1:p.Lys2170Thr
XM_011538758.3:c.6509A>C	XP_011537060.1:p.Lys2170Thr
XM_011538759.2:c.6509A>C	XP_011537061.1:p.Lys2170Thr
XM_011538760.2:c.6509A>C	XP_011537062.1:p.Lys2170Thr
XM_011538761.2:c.6509A>C	XP_011537063.1:p.Lys2170Thr
XM_011538762.3:c.5741A>C	XP_011537064.1:p.Lys1914Thr
XM_011538763.3:c.5648A>C	XP_011537065.1:p.Lys1883Thr
XM_011538764.3:c.6509A>C	XP_011537066.1:p.Lys2170Thr
XM_011538765.3:c.6509A>C	XP_011537067.1:p.Lys2170Thr
XM_011538766.3:c.4970A>C	XP_011537068.1:p.Lys1657Thr
XM_017019980.2:c.6509A>C	XP_016875469.1:p.Lys2170Thr
XM_017019981.2:c.6509A>C	XP_016875470.1:p.Lys2170Thr
XM_017019982.1:c.6509A>C	XP_016875471.1:p.Lys2170Thr
XM_017019983.2:c.5627A>C	XP_016875472.1:p.Lys1876Thr
XR_001748869.1:n.6853A>C
XR_001748870.2:n.6853A>C
NM_025114.4:c.5648A>C MANE Select	NP_079390.3:p.Lys1883Thr