Canonical Allele Identifier: CA481049313

Gene: CEP290

Linked Data

• dbSNP Id: rs1265290423
• gnomAD v2: 12-88496618-C-T
• gnomAD v4: 12-88102841-C-T
• MyVariant Identifiers: chr12:g.88496618C>T (hg19) ; chr12:g.88102841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88102841C>T , CM000674.2:g.88102841C>T	GRCh38
NC_000012.11:g.88496618C>T , CM000674.1:g.88496618C>T	GRCh37
NC_000012.10:g.87020749C>T	NCBI36
NG_008417.1:g.44376G>A
NG_008417.2:g.44376G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.2988G>A	ENSP00000308021.8:p.Leu996=
ENST00000547691.8:c.272G>A
ENST00000552810.6:c.2988G>A MANE Select	ENSP00000448012.1:p.Leu996=
ENST00000672414.2:c.*1159G>A	ENSP00000500729.1:n.*1159G>A
ENST00000672647.1:n.1348G>A
ENST00000673058.2:c.2988G>A	ENSP00000500665.2:p.Leu996=
ENST00000674971.1:c.2988G>A	ENSP00000502194.1:p.Leu996=
ENST00000675089.1:c.171G>A	ENSP00000501582.1:p.Leu57=
ENST00000675230.1:c.2967G>A	ENSP00000502503.1:p.Leu989=
ENST00000675408.1:c.2988G>A	ENSP00000502298.1:p.Leu996=
ENST00000675476.1:c.3849G>A	ENSP00000502161.1:p.Leu1283=
ENST00000675628.1:n.3215G>A
ENST00000675794.1:c.*1159G>A	ENSP00000502841.1:n.*1159G>A
ENST00000675833.1:c.3756G>A	ENSP00000502559.1:p.Leu1252=
ENST00000676074.1:c.2988G>A	ENSP00000502079.1:p.Leu996=
ENST00000676181.1:n.676G>A
ENST00000676363.1:n.8714G>A
ENST00000676448.1:c.*901G>A	ENSP00000501987.1:n.*901G>A
ENST00000309041.11:c.2994G>A	ENSP00000308021.7:p.Leu998=
ENST00000547691.6:c.168G>A	ENSP00000446905.1:p.Leu56=
ENST00000552810.5:c.2988G>A	ENSP00000448012.1:p.Leu996=
ENST00000604024.5:c.2247G>A	ENSP00000473863.1:p.Leu749=
NM_025114.3:c.2988G>A	NP_079390.3:p.Leu996=
XM_011538756.1:c.3849G>A	XP_011537058.1:p.Leu1283=
XM_011538757.1:c.3849G>A	XP_011537059.1:p.Leu1283=
XM_011538758.1:c.3849G>A	XP_011537060.1:p.Leu1283=
XM_011538759.1:c.3849G>A	XP_011537061.1:p.Leu1283=
XM_011538760.1:c.3849G>A	XP_011537062.1:p.Leu1283=
XM_011538761.1:c.3849G>A	XP_011537063.1:p.Leu1283=
XM_011538762.1:c.3081G>A	XP_011537064.1:p.Leu1027=
XM_011538763.1:c.2988G>A	XP_011537065.1:p.Leu996=
XM_011538764.1:c.3849G>A	XP_011537066.1:p.Leu1283=
XM_011538765.1:c.3849G>A	XP_011537067.1:p.Leu1283=
XM_011538766.1:c.2310G>A	XP_011537068.1:p.Leu770=
XM_011538756.3:c.3849G>A	XP_011537058.1:p.Leu1283=
XM_011538757.3:c.3849G>A	XP_011537059.1:p.Leu1283=
XM_011538758.3:c.3849G>A	XP_011537060.1:p.Leu1283=
XM_011538759.2:c.3849G>A	XP_011537061.1:p.Leu1283=
XM_011538760.2:c.3849G>A	XP_011537062.1:p.Leu1283=
XM_011538761.2:c.3849G>A	XP_011537063.1:p.Leu1283=
XM_011538762.3:c.3081G>A	XP_011537064.1:p.Leu1027=
XM_011538763.3:c.2988G>A	XP_011537065.1:p.Leu996=
XM_011538764.3:c.3849G>A	XP_011537066.1:p.Leu1283=
XM_011538765.3:c.3849G>A	XP_011537067.1:p.Leu1283=
XM_011538766.3:c.2310G>A	XP_011537068.1:p.Leu770=
XM_017019980.2:c.3849G>A	XP_016875469.1:p.Leu1283=
XM_017019981.2:c.3849G>A	XP_016875470.1:p.Leu1283=
XM_017019982.1:c.3849G>A	XP_016875471.1:p.Leu1283=
XM_017019983.2:c.2967G>A	XP_016875472.1:p.Leu989=
XR_001748869.1:n.4193G>A
XR_001748870.2:n.4193G>A
NM_025114.4:c.2988G>A MANE Select	NP_079390.3:p.Leu996=