Canonical Allele Identifier: CA6712623

Gene: CEP290

Linked Data

• ClinVar Variation Id: 281250
• ClinVar RCV Id: RCV000280320 ; RCV000320212 ; RCV000342452 ; RCV000354111 ; RCV000374721 ; RCV000396707 ; RCV000637003 ; RCV000714822 ; RCV001265795 ; RCV001275039 ; RCV001580478 ; RCV001589313 ; RCV002294212 ; RCV003319345
• dbSNP Id: rs201988582
• ExAC: 12:88519120 A / C
• gnomAD v2: 12-88519120-A-C
• gnomAD v3: 12-88125343-A-C
• gnomAD v4: 12-88125343-A-C
• MyVariant Identifiers: chr12:g.88519120A>C (hg19) ; chr12:g.88125343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88125343A>C , CM000674.2:g.88125343A>C	GRCh38
NC_000012.11:g.88519120A>C , CM000674.1:g.88519120A>C	GRCh37
NC_000012.10:g.87043251A>C	NCBI36
NG_008417.1:g.21874T>G
NG_008417.2:g.21874T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000309041.12:c.1092T>G	ENSP00000308021.8:p.Ile364Met
ENST00000397838.8:c.1038T>G	ENSP00000380938.5:p.Ile346Met
ENST00000547926.7:c.1092T>G	ENSP00000448573.3:p.Ile364Met
ENST00000552810.6:c.1092T>G MANE Select	ENSP00000448012.1:p.Ile364Met
ENST00000671822.2:n.1319T>G
ENST00000672414.2:c.1092T>G	ENSP00000500729.1:p.Ile364Met
ENST00000673058.2:c.1092T>G	ENSP00000500665.2:p.Ile364Met
ENST00000674971.1:c.1092T>G	ENSP00000502194.1:p.Ile364Met
ENST00000675230.1:c.1071T>G	ENSP00000502503.1:p.Ile357Met
ENST00000675408.1:c.1092T>G	ENSP00000502298.1:p.Ile364Met
ENST00000675476.1:c.1092T>G	ENSP00000502161.1:p.Ile364Met
ENST00000675559.1:c.1092T>G	ENSP00000502163.1:p.Ile364Met
ENST00000675628.1:n.1319T>G
ENST00000675794.1:c.1092T>G	ENSP00000502841.1:p.Ile364Met
ENST00000675833.1:c.1092T>G	ENSP00000502559.1:p.Ile364Met
ENST00000676074.1:c.1092T>G	ENSP00000502079.1:p.Ile364Met
ENST00000676351.1:c.*605T>G	ENSP00000502046.1:n.*605T>G
ENST00000676363.1:n.3155T>G
ENST00000676418.1:c.1092T>G	ENSP00000502371.1:p.Ile364Met
ENST00000676448.1:c.1092T>G	ENSP00000501987.1:p.Ile364Met
ENST00000309041.11:c.1092T>G	ENSP00000308021.7:p.Ile364Met
ENST00000397838.7:c.1092T>G	ENSP00000380938.4:p.Ile364Met
ENST00000547926.6:c.990T>G	ENSP00000448573.2:p.Ile330Met
ENST00000552810.5:c.1092T>G	ENSP00000448012.1:p.Ile364Met
ENST00000604024.5:c.258T>G	ENSP00000473863.1:p.Ile86Met
NM_025114.3:c.1092T>G	NP_079390.3:p.Ile364Met
XM_011538756.1:c.1092T>G	XP_011537058.1:p.Ile364Met
XM_011538757.1:c.1092T>G	XP_011537059.1:p.Ile364Met
XM_011538758.1:c.1092T>G	XP_011537060.1:p.Ile364Met
XM_011538759.1:c.1092T>G	XP_011537061.1:p.Ile364Met
XM_011538760.1:c.1092T>G	XP_011537062.1:p.Ile364Met
XM_011538761.1:c.1092T>G	XP_011537063.1:p.Ile364Met
XM_011538762.1:c.1092T>G	XP_011537064.1:p.Ile364Met
XM_011538763.1:c.1092T>G	XP_011537065.1:p.Ile364Met
XM_011538764.1:c.1092T>G	XP_011537066.1:p.Ile364Met
XM_011538765.1:c.1092T>G	XP_011537067.1:p.Ile364Met
XM_011538756.3:c.1092T>G	XP_011537058.1:p.Ile364Met
XM_011538757.3:c.1092T>G	XP_011537059.1:p.Ile364Met
XM_011538758.3:c.1092T>G	XP_011537060.1:p.Ile364Met
XM_011538759.2:c.1092T>G	XP_011537061.1:p.Ile364Met
XM_011538760.2:c.1092T>G	XP_011537062.1:p.Ile364Met
XM_011538761.2:c.1092T>G	XP_011537063.1:p.Ile364Met
XM_011538762.3:c.1092T>G	XP_011537064.1:p.Ile364Met
XM_011538763.3:c.1092T>G	XP_011537065.1:p.Ile364Met
XM_011538764.3:c.1092T>G	XP_011537066.1:p.Ile364Met
XM_011538765.3:c.1092T>G	XP_011537067.1:p.Ile364Met
XM_017019980.2:c.1092T>G	XP_016875469.1:p.Ile364Met
XM_017019981.2:c.1092T>G	XP_016875470.1:p.Ile364Met
XM_017019982.1:c.1092T>G	XP_016875471.1:p.Ile364Met
XM_017019983.2:c.1071T>G	XP_016875472.1:p.Ile357Met
XR_001748869.1:n.1436T>G
XR_001748870.2:n.1436T>G
NM_025114.4:c.1092T>G MANE Select	NP_079390.3:p.Ile364Met