Canonical Allele Identifier: CA385987919

Gene: CEP290

Linked Data

• gnomAD v4: 12-88077334-A-G
• MyVariant Identifiers: chr12:g.88471111A>G (hg19) ; chr12:g.88077334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077334A>G , CM000674.2:g.88077334A>G	GRCh38
NC_000012.11:g.88471111A>G , CM000674.1:g.88471111A>G	GRCh37
NC_000012.10:g.86995242A>G	NCBI36
NG_008417.1:g.69883T>C
NG_008417.2:g.69883T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309041.12:c.5597T>C	ENSP00000308021.8:p.Leu1866Pro
ENST00000547691.8:c.2881T>C
ENST00000552810.6:c.5597T>C MANE Select	ENSP00000448012.1:p.Leu1866Pro
ENST00000672414.2:c.*3768T>C	ENSP00000500729.1:n.*3768T>C
ENST00000672647.1:n.3957T>C
ENST00000673058.2:c.5597T>C	ENSP00000500665.2:p.Leu1866Pro
ENST00000674971.1:c.5597T>C	ENSP00000502194.1:p.Leu1866Pro
ENST00000675230.1:c.5576T>C	ENSP00000502503.1:p.Leu1859Pro
ENST00000675408.1:c.5597T>C	ENSP00000502298.1:p.Leu1866Pro
ENST00000675476.1:c.6458T>C	ENSP00000502161.1:p.Leu2153Pro
ENST00000675628.1:n.5824T>C
ENST00000675794.1:c.*3768T>C	ENSP00000502841.1:n.*3768T>C
ENST00000675833.1:c.6365T>C	ENSP00000502559.1:p.Leu2122Pro
ENST00000675894.1:n.1902T>C
ENST00000676074.1:c.5597T>C	ENSP00000502079.1:p.Leu1866Pro
ENST00000676181.1:n.4525T>C
ENST00000676363.1:n.11323T>C
ENST00000676448.1:c.*3510T>C	ENSP00000501987.1:n.*3510T>C
ENST00000309041.11:c.5603T>C	ENSP00000308021.7:p.Leu1868Pro
ENST00000547691.6:c.2777T>C	ENSP00000446905.1:p.Leu926Pro
ENST00000552810.5:c.5597T>C	ENSP00000448012.1:p.Leu1866Pro
NM_025114.3:c.5597T>C	NP_079390.3:p.Leu1866Pro
XM_011538756.1:c.6458T>C	XP_011537058.1:p.Leu2153Pro
XM_011538757.1:c.6458T>C	XP_011537059.1:p.Leu2153Pro
XM_011538758.1:c.6458T>C	XP_011537060.1:p.Leu2153Pro
XM_011538759.1:c.6458T>C	XP_011537061.1:p.Leu2153Pro
XM_011538760.1:c.6458T>C	XP_011537062.1:p.Leu2153Pro
XM_011538761.1:c.6458T>C	XP_011537063.1:p.Leu2153Pro
XM_011538762.1:c.5690T>C	XP_011537064.1:p.Leu1897Pro
XM_011538763.1:c.5597T>C	XP_011537065.1:p.Leu1866Pro
XM_011538764.1:c.6458T>C	XP_011537066.1:p.Leu2153Pro
XM_011538765.1:c.6458T>C	XP_011537067.1:p.Leu2153Pro
XM_011538766.1:c.4919T>C	XP_011537068.1:p.Leu1640Pro
XR_945163.1:n.968-4979A>G
XM_011538756.3:c.6458T>C	XP_011537058.1:p.Leu2153Pro
XM_011538757.3:c.6458T>C	XP_011537059.1:p.Leu2153Pro
XM_011538758.3:c.6458T>C	XP_011537060.1:p.Leu2153Pro
XM_011538759.2:c.6458T>C	XP_011537061.1:p.Leu2153Pro
XM_011538760.2:c.6458T>C	XP_011537062.1:p.Leu2153Pro
XM_011538761.2:c.6458T>C	XP_011537063.1:p.Leu2153Pro
XM_011538762.3:c.5690T>C	XP_011537064.1:p.Leu1897Pro
XM_011538763.3:c.5597T>C	XP_011537065.1:p.Leu1866Pro
XM_011538764.3:c.6458T>C	XP_011537066.1:p.Leu2153Pro
XM_011538765.3:c.6458T>C	XP_011537067.1:p.Leu2153Pro
XM_011538766.3:c.4919T>C	XP_011537068.1:p.Leu1640Pro
XM_017019980.2:c.6458T>C	XP_016875469.1:p.Leu2153Pro
XM_017019981.2:c.6458T>C	XP_016875470.1:p.Leu2153Pro
XM_017019982.1:c.6458T>C	XP_016875471.1:p.Leu2153Pro
XM_017019983.2:c.5576T>C	XP_016875472.1:p.Leu1859Pro
XR_001748869.1:n.6802T>C
XR_001748870.2:n.6802T>C
NM_025114.4:c.5597T>C MANE Select	NP_079390.3:p.Leu1866Pro