Canonical Allele Identifier: CA385992634

Gene: CEP290

Linked Data

• ClinVar Variation Id: 497762
• ClinVar RCV Id: RCV000595159 ; RCV001056739 ; RCV001276491 ; RCV002491180 ; RCV003465334 ; RCV003485612
• dbSNP Id: rs1369768287
• gnomAD v2: 12-88476806-A-G
• gnomAD v3: 12-88083029-A-G
• gnomAD v4: 12-88083029-A-G
• MyVariant Identifiers: chr12:g.88476806A>G (hg19) ; chr12:g.88083029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083029A>G , CM000674.2:g.88083029A>G	GRCh38
NC_000012.11:g.88476806A>G , CM000674.1:g.88476806A>G	GRCh37
NC_000012.10:g.87000937A>G	NCBI36
NG_008417.1:g.64188T>C
NG_008417.2:g.64188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5012+2T>C	ENSP00000308021.8:n.5012+2T>C
ENST00000547691.8:c.2296+2T>C
ENST00000552810.6:c.5012+2T>C MANE Select	ENSP00000448012.1:n.5012+2T>C
ENST00000672414.2:c.*3183+2T>C	ENSP00000500729.1:n.*3183+2T>C
ENST00000672647.1:n.3372+2T>C
ENST00000673058.2:c.5012+2T>C	ENSP00000500665.2:n.5012+2T>C
ENST00000674971.1:c.5012+2T>C	ENSP00000502194.1:n.5012+2T>C
ENST00000675230.1:c.4991+2T>C	ENSP00000502503.1:n.4991+2T>C
ENST00000675408.1:c.5012+2T>C	ENSP00000502298.1:n.5012+2T>C
ENST00000675476.1:c.5873+2T>C	ENSP00000502161.1:n.5873+2T>C
ENST00000675628.1:n.5239+2T>C
ENST00000675794.1:c.*3183+2T>C	ENSP00000502841.1:n.*3183+2T>C
ENST00000675833.1:c.5780+2T>C	ENSP00000502559.1:n.5780+2T>C
ENST00000675894.1:n.1317+2T>C
ENST00000676074.1:c.5012+2T>C	ENSP00000502079.1:n.5012+2T>C
ENST00000676181.1:n.3940+2T>C
ENST00000676363.1:n.10738+2T>C
ENST00000676448.1:c.*2925+2T>C	ENSP00000501987.1:n.*2925+2T>C
ENST00000309041.11:c.5018+2T>C	ENSP00000308021.7:n.5018+2T>C
ENST00000547691.6:c.2192+2T>C	ENSP00000446905.1:n.2192+2T>C
ENST00000552810.5:c.5012+2T>C	ENSP00000448012.1:n.5012+2T>C
NM_025114.3:c.5012+2T>C	NP_079390.3:n.5012+2T>C
XM_011538756.1:c.5873+2T>C	XP_011537058.1:n.5873+2T>C
XM_011538757.1:c.5873+2T>C	XP_011537059.1:n.5873+2T>C
XM_011538758.1:c.5873+2T>C	XP_011537060.1:n.5873+2T>C
XM_011538759.1:c.5873+2T>C	XP_011537061.1:n.5873+2T>C
XM_011538760.1:c.5873+2T>C	XP_011537062.1:n.5873+2T>C
XM_011538761.1:c.5873+2T>C	XP_011537063.1:n.5873+2T>C
XM_011538762.1:c.5105+2T>C	XP_011537064.1:n.5105+2T>C
XM_011538763.1:c.5012+2T>C	XP_011537065.1:n.5012+2T>C
XM_011538764.1:c.5873+2T>C	XP_011537066.1:n.5873+2T>C
XM_011538765.1:c.5873+2T>C	XP_011537067.1:n.5873+2T>C
XM_011538766.1:c.4334+2T>C	XP_011537068.1:n.4334+2T>C
XM_011538756.3:c.5873+2T>C	XP_011537058.1:n.5873+2T>C
XM_011538757.3:c.5873+2T>C	XP_011537059.1:n.5873+2T>C
XM_011538758.3:c.5873+2T>C	XP_011537060.1:n.5873+2T>C
XM_011538759.2:c.5873+2T>C	XP_011537061.1:n.5873+2T>C
XM_011538760.2:c.5873+2T>C	XP_011537062.1:n.5873+2T>C
XM_011538761.2:c.5873+2T>C	XP_011537063.1:n.5873+2T>C
XM_011538762.3:c.5105+2T>C	XP_011537064.1:n.5105+2T>C
XM_011538763.3:c.5012+2T>C	XP_011537065.1:n.5012+2T>C
XM_011538764.3:c.5873+2T>C	XP_011537066.1:n.5873+2T>C
XM_011538765.3:c.5873+2T>C	XP_011537067.1:n.5873+2T>C
XM_011538766.3:c.4334+2T>C	XP_011537068.1:n.4334+2T>C
XM_017019980.2:c.5873+2T>C	XP_016875469.1:n.5873+2T>C
XM_017019981.2:c.5873+2T>C	XP_016875470.1:n.5873+2T>C
XM_017019982.1:c.5873+2T>C	XP_016875471.1:n.5873+2T>C
XM_017019983.2:c.4991+2T>C	XP_016875472.1:n.4991+2T>C
XR_001748869.1:n.6217+2T>C
XR_001748870.2:n.6217+2T>C
NM_025114.4:c.5012+2T>C MANE Select	NP_079390.3:n.5012+2T>C