Canonical Allele Identifier: CA385978709

Gene: CEP290

Linked Data

• dbSNP Id: rs1272411609
• gnomAD v2: 12-88512262-G-T
• gnomAD v4: 12-88118485-G-T
• MyVariant Identifiers: chr12:g.88512262G>T (hg19) ; chr12:g.88118485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88118485G>T , CM000674.2:g.88118485G>T	GRCh38
NC_000012.11:g.88512262G>T , CM000674.1:g.88512262G>T	GRCh37
NC_000012.10:g.87036393G>T	NCBI36
NG_008417.1:g.28732C>A
NG_008417.2:g.28732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.1709C>A	ENSP00000308021.8:p.Ser570Ter
ENST00000397838.8:c.1655C>A	ENSP00000380938.5:p.Ser552Ter
ENST00000547926.7:c.1709C>A	ENSP00000448573.3:p.Ser570Ter
ENST00000552810.6:c.1709C>A MANE Select	ENSP00000448012.1:p.Ser570Ter
ENST00000671822.2:n.3378C>A
ENST00000672414.2:c.1709C>A	ENSP00000500729.1:p.Ser570Ter
ENST00000673058.2:c.1709C>A	ENSP00000500665.2:p.Ser570Ter
ENST00000674971.1:c.1709C>A	ENSP00000502194.1:p.Ser570Ter
ENST00000675230.1:c.1688C>A	ENSP00000502503.1:p.Ser563Ter
ENST00000675408.1:c.1709C>A	ENSP00000502298.1:p.Ser570Ter
ENST00000675476.1:c.1709C>A	ENSP00000502161.1:p.Ser570Ter
ENST00000675559.1:c.*255C>A	ENSP00000502163.1:n.*255C>A
ENST00000675628.1:n.1936C>A
ENST00000675794.1:c.1709C>A	ENSP00000502841.1:p.Ser570Ter
ENST00000675833.1:c.1709C>A	ENSP00000502559.1:p.Ser570Ter
ENST00000676074.1:c.1709C>A	ENSP00000502079.1:p.Ser570Ter
ENST00000676351.1:c.*2664C>A	ENSP00000502046.1:n.*2664C>A
ENST00000676363.1:n.3772C>A
ENST00000676418.1:c.*166C>A	ENSP00000502371.1:n.*166C>A
ENST00000676448.1:c.1709C>A	ENSP00000501987.1:p.Ser570Ter
ENST00000309041.11:c.1715C>A	ENSP00000308021.7:p.Ser572Ter
ENST00000397838.7:c.1715C>A	ENSP00000380938.4:p.Ser572Ter
ENST00000547926.6:c.1607C>A	ENSP00000448573.2:p.Ser536Ter
ENST00000552810.5:c.1709C>A	ENSP00000448012.1:p.Ser570Ter
ENST00000604024.5:c.875C>A	ENSP00000473863.1:p.Ser292Ter
NM_025114.3:c.1709C>A	NP_079390.3:p.Ser570Ter
XM_011538756.1:c.1709C>A	XP_011537058.1:p.Ser570Ter
XM_011538757.1:c.1709C>A	XP_011537059.1:p.Ser570Ter
XM_011538758.1:c.1709C>A	XP_011537060.1:p.Ser570Ter
XM_011538759.1:c.1709C>A	XP_011537061.1:p.Ser570Ter
XM_011538760.1:c.1709C>A	XP_011537062.1:p.Ser570Ter
XM_011538761.1:c.1709C>A	XP_011537063.1:p.Ser570Ter
XM_011538762.1:c.1709C>A	XP_011537064.1:p.Ser570Ter
XM_011538763.1:c.1709C>A	XP_011537065.1:p.Ser570Ter
XM_011538764.1:c.1709C>A	XP_011537066.1:p.Ser570Ter
XM_011538765.1:c.1709C>A	XP_011537067.1:p.Ser570Ter
XM_011538766.1:c.170C>A	XP_011537068.1:p.Ser57Ter
XM_011538756.3:c.1709C>A	XP_011537058.1:p.Ser570Ter
XM_011538757.3:c.1709C>A	XP_011537059.1:p.Ser570Ter
XM_011538758.3:c.1709C>A	XP_011537060.1:p.Ser570Ter
XM_011538759.2:c.1709C>A	XP_011537061.1:p.Ser570Ter
XM_011538760.2:c.1709C>A	XP_011537062.1:p.Ser570Ter
XM_011538761.2:c.1709C>A	XP_011537063.1:p.Ser570Ter
XM_011538762.3:c.1709C>A	XP_011537064.1:p.Ser570Ter
XM_011538763.3:c.1709C>A	XP_011537065.1:p.Ser570Ter
XM_011538764.3:c.1709C>A	XP_011537066.1:p.Ser570Ter
XM_011538765.3:c.1709C>A	XP_011537067.1:p.Ser570Ter
XM_011538766.3:c.170C>A	XP_011537068.1:p.Ser57Ter
XM_017019980.2:c.1709C>A	XP_016875469.1:p.Ser570Ter
XM_017019981.2:c.1709C>A	XP_016875470.1:p.Ser570Ter
XM_017019982.1:c.1709C>A	XP_016875471.1:p.Ser570Ter
XM_017019983.2:c.1688C>A	XP_016875472.1:p.Ser563Ter
XR_001748869.1:n.2053C>A
XR_001748870.2:n.2053C>A
NM_025114.4:c.1709C>A MANE Select	NP_079390.3:p.Ser570Ter