Canonical Allele Identifier: CA481052950

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88050375A>G , CM000674.2:g.88050375A>G	GRCh38
NC_000012.11:g.88444152A>G , CM000674.1:g.88444152A>G	GRCh37
NC_000012.10:g.86968283A>G	NCBI36
NG_008417.1:g.96842T>C
NG_008417.2:g.96842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.7197T>C	ENSP00000308021.8:p.Asp2399=
ENST00000547691.8:c.4157T>C
ENST00000552810.6:c.7188T>C MANE Select	ENSP00000448012.1:p.Asp2396=
ENST00000671777.2:n.967T>C
ENST00000672414.2:c.*5194T>C	ENSP00000500729.1:n.*5194T>C
ENST00000672647.1:n.5548T>C
ENST00000673058.2:c.7065T>C	ENSP00000500665.2:p.Asp2355=
ENST00000674712.1:n.715T>C
ENST00000674889.1:n.4141T>C
ENST00000674971.1:c.*145T>C	ENSP00000502194.1:n.*145T>C
ENST00000675230.1:c.7167T>C	ENSP00000502503.1:p.Asp2389=
ENST00000675408.1:c.7023T>C	ENSP00000502298.1:p.Asp2341=
ENST00000675476.1:c.8049T>C	ENSP00000502161.1:p.Asp2683=
ENST00000675628.1:n.9170T>C
ENST00000675794.1:c.*5359T>C	ENSP00000502841.1:n.*5359T>C
ENST00000675833.1:c.7956T>C	ENSP00000502559.1:p.Asp2652=
ENST00000675894.1:n.3493T>C
ENST00000676074.1:c.*145T>C	ENSP00000502079.1:n.*145T>C
ENST00000676181.1:n.7871T>C
ENST00000676190.1:n.3382T>C
ENST00000676363.1:n.12914T>C
ENST00000309041.11:c.7194T>C	ENSP00000308021.7:p.Asp2398=
ENST00000547691.6:c.4368T>C	ENSP00000446905.1:p.Asp1456=
ENST00000552810.5:c.7188T>C	ENSP00000448012.1:p.Asp2396=
NM_025114.3:c.7188T>C	NP_079390.3:p.Asp2396=
XM_011538756.1:c.8058T>C	XP_011537058.1:p.Asp2686=
XM_011538757.1:c.8058T>C	XP_011537059.1:p.Asp2686=
XM_011538758.1:c.8055T>C	XP_011537060.1:p.Asp2685=
XM_011538759.1:c.8049T>C	XP_011537061.1:p.Asp2683=
XM_011538760.1:c.7935T>C	XP_011537062.1:p.Asp2645=
XM_011538761.1:c.7893T>C	XP_011537063.1:p.Asp2631=
XM_011538762.1:c.7290T>C	XP_011537064.1:p.Asp2430=
XM_011538763.1:c.7197T>C	XP_011537065.1:p.Asp2399=
XM_011538766.1:c.6519T>C	XP_011537068.1:p.Asp2173=
XM_011538756.3:c.8058T>C	XP_011537058.1:p.Asp2686=
XM_011538757.3:c.8058T>C	XP_011537059.1:p.Asp2686=
XM_011538758.3:c.8055T>C	XP_011537060.1:p.Asp2685=
XM_011538759.2:c.8049T>C	XP_011537061.1:p.Asp2683=
XM_011538760.2:c.7935T>C	XP_011537062.1:p.Asp2645=
XM_011538761.2:c.7893T>C	XP_011537063.1:p.Asp2631=
XM_011538762.3:c.7290T>C	XP_011537064.1:p.Asp2430=
XM_011538763.3:c.7197T>C	XP_011537065.1:p.Asp2399=
XM_011538766.3:c.6519T>C	XP_011537068.1:p.Asp2173=
XM_017019980.2:c.7926T>C	XP_016875469.1:p.Asp2642=
XM_017019981.2:c.7884T>C	XP_016875470.1:p.Asp2628=
XM_017019983.2:c.7176T>C	XP_016875472.1:p.Asp2392=
XR_001748869.1:n.8319T>C
XR_001748870.2:n.8154T>C
NM_025114.4:c.7188T>C MANE Select	NP_079390.3:p.Asp2396=