Canonical Allele Identifier: CA385969053

Gene: CEP290

Linked Data

• gnomAD v4: 12-88102857-C-T
• MyVariant Identifiers: chr12:g.88496634C>T (hg19) ; chr12:g.88102857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88102857C>T , CM000674.2:g.88102857C>T	GRCh38
NC_000012.11:g.88496634C>T , CM000674.1:g.88496634C>T	GRCh37
NC_000012.10:g.87020765C>T	NCBI36
NG_008417.1:g.44360G>A
NG_008417.2:g.44360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.2972G>A	ENSP00000308021.8:p.Ser991Asn
ENST00000547691.8:c.256G>A
ENST00000552810.6:c.2972G>A MANE Select	ENSP00000448012.1:p.Ser991Asn
ENST00000672414.2:c.*1143G>A	ENSP00000500729.1:n.*1143G>A
ENST00000672647.1:n.1332G>A
ENST00000673058.2:c.2972G>A	ENSP00000500665.2:p.Ser991Asn
ENST00000674971.1:c.2972G>A	ENSP00000502194.1:p.Ser991Asn
ENST00000675089.1:c.155G>A	ENSP00000501582.1:p.Ser52Asn
ENST00000675230.1:c.2951G>A	ENSP00000502503.1:p.Ser984Asn
ENST00000675408.1:c.2972G>A	ENSP00000502298.1:p.Ser991Asn
ENST00000675476.1:c.3833G>A	ENSP00000502161.1:p.Ser1278Asn
ENST00000675628.1:n.3199G>A
ENST00000675794.1:c.*1143G>A	ENSP00000502841.1:n.*1143G>A
ENST00000675833.1:c.3740G>A	ENSP00000502559.1:p.Ser1247Asn
ENST00000676074.1:c.2972G>A	ENSP00000502079.1:p.Ser991Asn
ENST00000676181.1:n.660G>A
ENST00000676363.1:n.8698G>A
ENST00000676448.1:c.*885G>A	ENSP00000501987.1:n.*885G>A
ENST00000309041.11:c.2978G>A	ENSP00000308021.7:p.Ser993Asn
ENST00000547691.6:c.152G>A	ENSP00000446905.1:p.Ser51Asn
ENST00000552810.5:c.2972G>A	ENSP00000448012.1:p.Ser991Asn
ENST00000604024.5:c.2231G>A	ENSP00000473863.1:p.Ser744Asn
NM_025114.3:c.2972G>A	NP_079390.3:p.Ser991Asn
XM_011538756.1:c.3833G>A	XP_011537058.1:p.Ser1278Asn
XM_011538757.1:c.3833G>A	XP_011537059.1:p.Ser1278Asn
XM_011538758.1:c.3833G>A	XP_011537060.1:p.Ser1278Asn
XM_011538759.1:c.3833G>A	XP_011537061.1:p.Ser1278Asn
XM_011538760.1:c.3833G>A	XP_011537062.1:p.Ser1278Asn
XM_011538761.1:c.3833G>A	XP_011537063.1:p.Ser1278Asn
XM_011538762.1:c.3065G>A	XP_011537064.1:p.Ser1022Asn
XM_011538763.1:c.2972G>A	XP_011537065.1:p.Ser991Asn
XM_011538764.1:c.3833G>A	XP_011537066.1:p.Ser1278Asn
XM_011538765.1:c.3833G>A	XP_011537067.1:p.Ser1278Asn
XM_011538766.1:c.2294G>A	XP_011537068.1:p.Ser765Asn
XM_011538756.3:c.3833G>A	XP_011537058.1:p.Ser1278Asn
XM_011538757.3:c.3833G>A	XP_011537059.1:p.Ser1278Asn
XM_011538758.3:c.3833G>A	XP_011537060.1:p.Ser1278Asn
XM_011538759.2:c.3833G>A	XP_011537061.1:p.Ser1278Asn
XM_011538760.2:c.3833G>A	XP_011537062.1:p.Ser1278Asn
XM_011538761.2:c.3833G>A	XP_011537063.1:p.Ser1278Asn
XM_011538762.3:c.3065G>A	XP_011537064.1:p.Ser1022Asn
XM_011538763.3:c.2972G>A	XP_011537065.1:p.Ser991Asn
XM_011538764.3:c.3833G>A	XP_011537066.1:p.Ser1278Asn
XM_011538765.3:c.3833G>A	XP_011537067.1:p.Ser1278Asn
XM_011538766.3:c.2294G>A	XP_011537068.1:p.Ser765Asn
XM_017019980.2:c.3833G>A	XP_016875469.1:p.Ser1278Asn
XM_017019981.2:c.3833G>A	XP_016875470.1:p.Ser1278Asn
XM_017019982.1:c.3833G>A	XP_016875471.1:p.Ser1278Asn
XM_017019983.2:c.2951G>A	XP_016875472.1:p.Ser984Asn
XR_001748869.1:n.4177G>A
XR_001748870.2:n.4177G>A
NM_025114.4:c.2972G>A MANE Select	NP_079390.3:p.Ser991Asn