Canonical Allele Identifier: CA6711872

Gene: CEP290

Linked Data

• ClinVar Variation Id: 1696398
• ClinVar RCV Id: RCV002266543
• dbSNP Id: rs780960290
• ExAC: 12:88477720 T / G
• gnomAD v2: 12-88477720-T-G
• gnomAD v4: 12-88083943-T-G
• MyVariant Identifiers: chr12:g.88477720T>G (hg19) ; chr12:g.88083943T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083943T>G , CM000674.2:g.88083943T>G	GRCh38
NC_000012.11:g.88477720T>G , CM000674.1:g.88477720T>G	GRCh37
NC_000012.10:g.87001851T>G	NCBI36
NG_008417.1:g.63274A>C
NG_008417.2:g.63274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4716A>C	ENSP00000308021.8:p.Glu1572Asp
ENST00000547691.8:c.2000A>C
ENST00000552810.6:c.4716A>C MANE Select	ENSP00000448012.1:p.Glu1572Asp
ENST00000672414.2:c.*2887A>C	ENSP00000500729.1:n.*2887A>C
ENST00000672647.1:n.3076A>C
ENST00000673058.2:c.4716A>C	ENSP00000500665.2:p.Glu1572Asp
ENST00000674971.1:c.4716A>C	ENSP00000502194.1:p.Glu1572Asp
ENST00000675230.1:c.4695A>C	ENSP00000502503.1:p.Glu1565Asp
ENST00000675408.1:c.4716A>C	ENSP00000502298.1:p.Glu1572Asp
ENST00000675476.1:c.5577A>C	ENSP00000502161.1:p.Glu1859Asp
ENST00000675628.1:n.4943A>C
ENST00000675794.1:c.*2887A>C	ENSP00000502841.1:n.*2887A>C
ENST00000675833.1:c.5484A>C	ENSP00000502559.1:p.Glu1828Asp
ENST00000675894.1:n.1021A>C
ENST00000676074.1:c.4716A>C	ENSP00000502079.1:p.Glu1572Asp
ENST00000676181.1:n.3644A>C
ENST00000676363.1:n.10442A>C
ENST00000676448.1:c.*2629A>C	ENSP00000501987.1:n.*2629A>C
ENST00000309041.11:c.4722A>C	ENSP00000308021.7:p.Glu1574Asp
ENST00000547691.6:c.1896A>C	ENSP00000446905.1:p.Glu632Asp
ENST00000552810.5:c.4716A>C	ENSP00000448012.1:p.Glu1572Asp
NM_025114.3:c.4716A>C	NP_079390.3:p.Glu1572Asp
XM_011538756.1:c.5577A>C	XP_011537058.1:p.Glu1859Asp
XM_011538757.1:c.5577A>C	XP_011537059.1:p.Glu1859Asp
XM_011538758.1:c.5577A>C	XP_011537060.1:p.Glu1859Asp
XM_011538759.1:c.5577A>C	XP_011537061.1:p.Glu1859Asp
XM_011538760.1:c.5577A>C	XP_011537062.1:p.Glu1859Asp
XM_011538761.1:c.5577A>C	XP_011537063.1:p.Glu1859Asp
XM_011538762.1:c.4809A>C	XP_011537064.1:p.Glu1603Asp
XM_011538763.1:c.4716A>C	XP_011537065.1:p.Glu1572Asp
XM_011538764.1:c.5577A>C	XP_011537066.1:p.Glu1859Asp
XM_011538765.1:c.5577A>C	XP_011537067.1:p.Glu1859Asp
XM_011538766.1:c.4038A>C	XP_011537068.1:p.Glu1346Asp
XM_011538756.3:c.5577A>C	XP_011537058.1:p.Glu1859Asp
XM_011538757.3:c.5577A>C	XP_011537059.1:p.Glu1859Asp
XM_011538758.3:c.5577A>C	XP_011537060.1:p.Glu1859Asp
XM_011538759.2:c.5577A>C	XP_011537061.1:p.Glu1859Asp
XM_011538760.2:c.5577A>C	XP_011537062.1:p.Glu1859Asp
XM_011538761.2:c.5577A>C	XP_011537063.1:p.Glu1859Asp
XM_011538762.3:c.4809A>C	XP_011537064.1:p.Glu1603Asp
XM_011538763.3:c.4716A>C	XP_011537065.1:p.Glu1572Asp
XM_011538764.3:c.5577A>C	XP_011537066.1:p.Glu1859Asp
XM_011538765.3:c.5577A>C	XP_011537067.1:p.Glu1859Asp
XM_011538766.3:c.4038A>C	XP_011537068.1:p.Glu1346Asp
XM_017019980.2:c.5577A>C	XP_016875469.1:p.Glu1859Asp
XM_017019981.2:c.5577A>C	XP_016875470.1:p.Glu1859Asp
XM_017019982.1:c.5577A>C	XP_016875471.1:p.Glu1859Asp
XM_017019983.2:c.4695A>C	XP_016875472.1:p.Glu1565Asp
XR_001748869.1:n.5921A>C
XR_001748870.2:n.5921A>C
NM_025114.4:c.4716A>C MANE Select	NP_079390.3:p.Glu1572Asp