Canonical Allele Identifier: CA385979417

Gene: CEP290

Linked Data

• MyVariant Identifiers: chr12:g.88456551T>G (hg19) ; chr12:g.88062774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062774T>G , CM000674.2:g.88062774T>G	GRCh38
NC_000012.11:g.88456551T>G , CM000674.1:g.88456551T>G	GRCh37
NC_000012.10:g.86980682T>G	NCBI36
NG_008417.1:g.84443A>C
NG_008417.2:g.84443A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6284A>C	ENSP00000308021.8:p.Gln2095Pro
ENST00000547691.8:c.3559A>C
ENST00000552810.6:c.6275A>C MANE Select	ENSP00000448012.1:p.Gln2092Pro
ENST00000672414.2:c.*4446A>C	ENSP00000500729.1:n.*4446A>C
ENST00000672647.1:n.4635A>C
ENST00000673058.2:c.6275A>C	ENSP00000500665.2:p.Gln2092Pro
ENST00000674889.1:n.3228A>C
ENST00000674971.1:c.6275A>C	ENSP00000502194.1:p.Gln2092Pro
ENST00000675230.1:c.6254A>C	ENSP00000502503.1:p.Gln2085Pro
ENST00000675408.1:c.6275A>C	ENSP00000502298.1:p.Gln2092Pro
ENST00000675476.1:c.7136A>C	ENSP00000502161.1:p.Gln2379Pro
ENST00000675628.1:n.6502A>C
ENST00000675794.1:c.*4446A>C	ENSP00000502841.1:n.*4446A>C
ENST00000675833.1:c.7043A>C	ENSP00000502559.1:p.Gln2348Pro
ENST00000675894.1:n.2580A>C
ENST00000676074.1:c.6275A>C	ENSP00000502079.1:p.Gln2092Pro
ENST00000676181.1:n.5203A>C
ENST00000676190.1:n.714A>C
ENST00000676363.1:n.12001A>C
ENST00000309041.11:c.6281A>C	ENSP00000308021.7:p.Gln2094Pro
ENST00000547691.6:c.3455A>C	ENSP00000446905.1:p.Gln1152Pro
ENST00000552810.5:c.6275A>C	ENSP00000448012.1:p.Gln2092Pro
NM_025114.3:c.6275A>C	NP_079390.3:p.Gln2092Pro
XM_011538756.1:c.7145A>C	XP_011537058.1:p.Gln2382Pro
XM_011538757.1:c.7145A>C	XP_011537059.1:p.Gln2382Pro
XM_011538758.1:c.7142A>C	XP_011537060.1:p.Gln2381Pro
XM_011538759.1:c.7136A>C	XP_011537061.1:p.Gln2379Pro
XM_011538760.1:c.7145A>C	XP_011537062.1:p.Gln2382Pro
XM_011538761.1:c.7145A>C	XP_011537063.1:p.Gln2382Pro
XM_011538762.1:c.6377A>C	XP_011537064.1:p.Gln2126Pro
XM_011538763.1:c.6284A>C	XP_011537065.1:p.Gln2095Pro
XM_011538766.1:c.5606A>C	XP_011537068.1:p.Gln1869Pro
XR_945163.1:n.967+5754T>G
XM_011538756.3:c.7145A>C	XP_011537058.1:p.Gln2382Pro
XM_011538757.3:c.7145A>C	XP_011537059.1:p.Gln2382Pro
XM_011538758.3:c.7142A>C	XP_011537060.1:p.Gln2381Pro
XM_011538759.2:c.7136A>C	XP_011537061.1:p.Gln2379Pro
XM_011538760.2:c.7145A>C	XP_011537062.1:p.Gln2382Pro
XM_011538761.2:c.7145A>C	XP_011537063.1:p.Gln2382Pro
XM_011538762.3:c.6377A>C	XP_011537064.1:p.Gln2126Pro
XM_011538763.3:c.6284A>C	XP_011537065.1:p.Gln2095Pro
XM_011538766.3:c.5606A>C	XP_011537068.1:p.Gln1869Pro
XM_017019980.2:c.7136A>C	XP_016875469.1:p.Gln2379Pro
XM_017019981.2:c.7136A>C	XP_016875470.1:p.Gln2379Pro
XM_017019982.1:c.7145A>C	XP_016875471.1:p.Gln2382Pro
XM_017019983.2:c.6263A>C	XP_016875472.1:p.Gln2088Pro
XR_001748869.1:n.7480A>C
XR_001748870.2:n.7480A>C
NM_025114.4:c.6275A>C MANE Select	NP_079390.3:p.Gln2092Pro