Canonical Allele Identifier: CA385992847

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2080974
• ClinVar RCV Id: RCV002979596
• dbSNP Id: rs1323137920
• gnomAD v2: 12-88476897-C-A
• gnomAD v4: 12-88083120-C-A
• MyVariant Identifiers: chr12:g.88476897C>A (hg19) ; chr12:g.88083120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083120C>A , CM000674.2:g.88083120C>A	GRCh38
NC_000012.11:g.88476897C>A , CM000674.1:g.88476897C>A	GRCh37
NC_000012.10:g.87001028C>A	NCBI36
NG_008417.1:g.64097G>T
NG_008417.2:g.64097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4923G>T	ENSP00000308021.8:p.Leu1641Phe
ENST00000547691.8:c.2207G>T
ENST00000552810.6:c.4923G>T MANE Select	ENSP00000448012.1:p.Leu1641Phe
ENST00000672414.2:c.*3094G>T	ENSP00000500729.1:n.*3094G>T
ENST00000672647.1:n.3283G>T
ENST00000673058.2:c.4923G>T	ENSP00000500665.2:p.Leu1641Phe
ENST00000674971.1:c.4923G>T	ENSP00000502194.1:p.Leu1641Phe
ENST00000675230.1:c.4902G>T	ENSP00000502503.1:p.Leu1634Phe
ENST00000675408.1:c.4923G>T	ENSP00000502298.1:p.Leu1641Phe
ENST00000675476.1:c.5784G>T	ENSP00000502161.1:p.Leu1928Phe
ENST00000675628.1:n.5150G>T
ENST00000675794.1:c.*3094G>T	ENSP00000502841.1:n.*3094G>T
ENST00000675833.1:c.5691G>T	ENSP00000502559.1:p.Leu1897Phe
ENST00000675894.1:n.1228G>T
ENST00000676074.1:c.4923G>T	ENSP00000502079.1:p.Leu1641Phe
ENST00000676181.1:n.3851G>T
ENST00000676363.1:n.10649G>T
ENST00000676448.1:c.*2836G>T	ENSP00000501987.1:n.*2836G>T
ENST00000309041.11:c.4929G>T	ENSP00000308021.7:p.Leu1643Phe
ENST00000547691.6:c.2103G>T	ENSP00000446905.1:p.Leu701Phe
ENST00000552810.5:c.4923G>T	ENSP00000448012.1:p.Leu1641Phe
NM_025114.3:c.4923G>T	NP_079390.3:p.Leu1641Phe
XM_011538756.1:c.5784G>T	XP_011537058.1:p.Leu1928Phe
XM_011538757.1:c.5784G>T	XP_011537059.1:p.Leu1928Phe
XM_011538758.1:c.5784G>T	XP_011537060.1:p.Leu1928Phe
XM_011538759.1:c.5784G>T	XP_011537061.1:p.Leu1928Phe
XM_011538760.1:c.5784G>T	XP_011537062.1:p.Leu1928Phe
XM_011538761.1:c.5784G>T	XP_011537063.1:p.Leu1928Phe
XM_011538762.1:c.5016G>T	XP_011537064.1:p.Leu1672Phe
XM_011538763.1:c.4923G>T	XP_011537065.1:p.Leu1641Phe
XM_011538764.1:c.5784G>T	XP_011537066.1:p.Leu1928Phe
XM_011538765.1:c.5784G>T	XP_011537067.1:p.Leu1928Phe
XM_011538766.1:c.4245G>T	XP_011537068.1:p.Leu1415Phe
XM_011538756.3:c.5784G>T	XP_011537058.1:p.Leu1928Phe
XM_011538757.3:c.5784G>T	XP_011537059.1:p.Leu1928Phe
XM_011538758.3:c.5784G>T	XP_011537060.1:p.Leu1928Phe
XM_011538759.2:c.5784G>T	XP_011537061.1:p.Leu1928Phe
XM_011538760.2:c.5784G>T	XP_011537062.1:p.Leu1928Phe
XM_011538761.2:c.5784G>T	XP_011537063.1:p.Leu1928Phe
XM_011538762.3:c.5016G>T	XP_011537064.1:p.Leu1672Phe
XM_011538763.3:c.4923G>T	XP_011537065.1:p.Leu1641Phe
XM_011538764.3:c.5784G>T	XP_011537066.1:p.Leu1928Phe
XM_011538765.3:c.5784G>T	XP_011537067.1:p.Leu1928Phe
XM_011538766.3:c.4245G>T	XP_011537068.1:p.Leu1415Phe
XM_017019980.2:c.5784G>T	XP_016875469.1:p.Leu1928Phe
XM_017019981.2:c.5784G>T	XP_016875470.1:p.Leu1928Phe
XM_017019982.1:c.5784G>T	XP_016875471.1:p.Leu1928Phe
XM_017019983.2:c.4902G>T	XP_016875472.1:p.Leu1634Phe
XR_001748869.1:n.6128G>T
XR_001748870.2:n.6128G>T
NM_025114.4:c.4923G>T MANE Select	NP_079390.3:p.Leu1641Phe