Canonical Allele Identifier: CA385969219

Gene: CEP290

Linked Data

• ClinVar Variation Id: 957522
• ClinVar RCV Id: RCV001230514 ; RCV001828841
• dbSNP Id: rs2037998907
• gnomAD v3: 12-88102878-T-A
• gnomAD v4: 12-88102878-T-A
• MyVariant Identifiers: chr12:g.88496655T>A (hg19) ; chr12:g.88102878T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88102878T>A , CM000674.2:g.88102878T>A	GRCh38
NC_000012.11:g.88496655T>A , CM000674.1:g.88496655T>A	GRCh37
NC_000012.10:g.87020786T>A	NCBI36
NG_008417.1:g.44339A>T
NG_008417.2:g.44339A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.2951A>T	ENSP00000308021.8:p.Asn984Ile
ENST00000547691.8:c.235A>T
ENST00000552810.6:c.2951A>T MANE Select	ENSP00000448012.1:p.Asn984Ile
ENST00000672414.2:c.*1122A>T	ENSP00000500729.1:n.*1122A>T
ENST00000672647.1:n.1311A>T
ENST00000673058.2:c.2951A>T	ENSP00000500665.2:p.Asn984Ile
ENST00000674971.1:c.2951A>T	ENSP00000502194.1:p.Asn984Ile
ENST00000675089.1:c.134A>T	ENSP00000501582.1:p.Asn45Ile
ENST00000675230.1:c.2930A>T	ENSP00000502503.1:p.Asn977Ile
ENST00000675408.1:c.2951A>T	ENSP00000502298.1:p.Asn984Ile
ENST00000675476.1:c.3812A>T	ENSP00000502161.1:p.Asn1271Ile
ENST00000675628.1:n.3178A>T
ENST00000675794.1:c.*1122A>T	ENSP00000502841.1:n.*1122A>T
ENST00000675833.1:c.3719A>T	ENSP00000502559.1:p.Asn1240Ile
ENST00000676074.1:c.2951A>T	ENSP00000502079.1:p.Asn984Ile
ENST00000676181.1:n.639A>T
ENST00000676363.1:n.8677A>T
ENST00000676448.1:c.*864A>T	ENSP00000501987.1:n.*864A>T
ENST00000309041.11:c.2957A>T	ENSP00000308021.7:p.Asn986Ile
ENST00000547691.6:c.131A>T	ENSP00000446905.1:p.Asn44Ile
ENST00000552810.5:c.2951A>T	ENSP00000448012.1:p.Asn984Ile
ENST00000604024.5:c.2210A>T	ENSP00000473863.1:p.Asn737Ile
NM_025114.3:c.2951A>T	NP_079390.3:p.Asn984Ile
XM_011538756.1:c.3812A>T	XP_011537058.1:p.Asn1271Ile
XM_011538757.1:c.3812A>T	XP_011537059.1:p.Asn1271Ile
XM_011538758.1:c.3812A>T	XP_011537060.1:p.Asn1271Ile
XM_011538759.1:c.3812A>T	XP_011537061.1:p.Asn1271Ile
XM_011538760.1:c.3812A>T	XP_011537062.1:p.Asn1271Ile
XM_011538761.1:c.3812A>T	XP_011537063.1:p.Asn1271Ile
XM_011538762.1:c.3044A>T	XP_011537064.1:p.Asn1015Ile
XM_011538763.1:c.2951A>T	XP_011537065.1:p.Asn984Ile
XM_011538764.1:c.3812A>T	XP_011537066.1:p.Asn1271Ile
XM_011538765.1:c.3812A>T	XP_011537067.1:p.Asn1271Ile
XM_011538766.1:c.2273A>T	XP_011537068.1:p.Asn758Ile
XM_011538756.3:c.3812A>T	XP_011537058.1:p.Asn1271Ile
XM_011538757.3:c.3812A>T	XP_011537059.1:p.Asn1271Ile
XM_011538758.3:c.3812A>T	XP_011537060.1:p.Asn1271Ile
XM_011538759.2:c.3812A>T	XP_011537061.1:p.Asn1271Ile
XM_011538760.2:c.3812A>T	XP_011537062.1:p.Asn1271Ile
XM_011538761.2:c.3812A>T	XP_011537063.1:p.Asn1271Ile
XM_011538762.3:c.3044A>T	XP_011537064.1:p.Asn1015Ile
XM_011538763.3:c.2951A>T	XP_011537065.1:p.Asn984Ile
XM_011538764.3:c.3812A>T	XP_011537066.1:p.Asn1271Ile
XM_011538765.3:c.3812A>T	XP_011537067.1:p.Asn1271Ile
XM_011538766.3:c.2273A>T	XP_011537068.1:p.Asn758Ile
XM_017019980.2:c.3812A>T	XP_016875469.1:p.Asn1271Ile
XM_017019981.2:c.3812A>T	XP_016875470.1:p.Asn1271Ile
XM_017019982.1:c.3812A>T	XP_016875471.1:p.Asn1271Ile
XM_017019983.2:c.2930A>T	XP_016875472.1:p.Asn977Ile
XR_001748869.1:n.4156A>T
XR_001748870.2:n.4156A>T
NM_025114.4:c.2951A>T MANE Select	NP_079390.3:p.Asn984Ile