Canonical Allele Identifier: CA385979429

Gene: CEP290

Linked Data

• MyVariant Identifiers: chr12:g.88456554T>C (hg19) ; chr12:g.88062777T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062777T>C , CM000674.2:g.88062777T>C	GRCh38
NC_000012.11:g.88456554T>C , CM000674.1:g.88456554T>C	GRCh37
NC_000012.10:g.86980685T>C	NCBI36
NG_008417.1:g.84440A>G
NG_008417.2:g.84440A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000309041.12:c.6281A>G	ENSP00000308021.8:p.Asn2094Ser
ENST00000547691.8:c.3556A>G
ENST00000552810.6:c.6272A>G MANE Select	ENSP00000448012.1:p.Asn2091Ser
ENST00000672414.2:c.*4443A>G	ENSP00000500729.1:n.*4443A>G
ENST00000672647.1:n.4632A>G
ENST00000673058.2:c.6272A>G	ENSP00000500665.2:p.Asn2091Ser
ENST00000674889.1:n.3225A>G
ENST00000674971.1:c.6272A>G	ENSP00000502194.1:p.Asn2091Ser
ENST00000675230.1:c.6251A>G	ENSP00000502503.1:p.Asn2084Ser
ENST00000675408.1:c.6272A>G	ENSP00000502298.1:p.Asn2091Ser
ENST00000675476.1:c.7133A>G	ENSP00000502161.1:p.Asn2378Ser
ENST00000675628.1:n.6499A>G
ENST00000675794.1:c.*4443A>G	ENSP00000502841.1:n.*4443A>G
ENST00000675833.1:c.7040A>G	ENSP00000502559.1:p.Asn2347Ser
ENST00000675894.1:n.2577A>G
ENST00000676074.1:c.6272A>G	ENSP00000502079.1:p.Asn2091Ser
ENST00000676181.1:n.5200A>G
ENST00000676190.1:n.711A>G
ENST00000676363.1:n.11998A>G
ENST00000309041.11:c.6278A>G	ENSP00000308021.7:p.Asn2093Ser
ENST00000547691.6:c.3452A>G	ENSP00000446905.1:p.Asn1151Ser
ENST00000552810.5:c.6272A>G	ENSP00000448012.1:p.Asn2091Ser
NM_025114.3:c.6272A>G	NP_079390.3:p.Asn2091Ser
XM_011538756.1:c.7142A>G	XP_011537058.1:p.Asn2381Ser
XM_011538757.1:c.7142A>G	XP_011537059.1:p.Asn2381Ser
XM_011538758.1:c.7139A>G	XP_011537060.1:p.Asn2380Ser
XM_011538759.1:c.7133A>G	XP_011537061.1:p.Asn2378Ser
XM_011538760.1:c.7142A>G	XP_011537062.1:p.Asn2381Ser
XM_011538761.1:c.7142A>G	XP_011537063.1:p.Asn2381Ser
XM_011538762.1:c.6374A>G	XP_011537064.1:p.Asn2125Ser
XM_011538763.1:c.6281A>G	XP_011537065.1:p.Asn2094Ser
XM_011538766.1:c.5603A>G	XP_011537068.1:p.Asn1868Ser
XR_945163.1:n.967+5757T>C
XM_011538756.3:c.7142A>G	XP_011537058.1:p.Asn2381Ser
XM_011538757.3:c.7142A>G	XP_011537059.1:p.Asn2381Ser
XM_011538758.3:c.7139A>G	XP_011537060.1:p.Asn2380Ser
XM_011538759.2:c.7133A>G	XP_011537061.1:p.Asn2378Ser
XM_011538760.2:c.7142A>G	XP_011537062.1:p.Asn2381Ser
XM_011538761.2:c.7142A>G	XP_011537063.1:p.Asn2381Ser
XM_011538762.3:c.6374A>G	XP_011537064.1:p.Asn2125Ser
XM_011538763.3:c.6281A>G	XP_011537065.1:p.Asn2094Ser
XM_011538766.3:c.5603A>G	XP_011537068.1:p.Asn1868Ser
XM_017019980.2:c.7133A>G	XP_016875469.1:p.Asn2378Ser
XM_017019981.2:c.7133A>G	XP_016875470.1:p.Asn2378Ser
XM_017019982.1:c.7142A>G	XP_016875471.1:p.Asn2381Ser
XM_017019983.2:c.6260A>G	XP_016875472.1:p.Asn2087Ser
XR_001748869.1:n.7477A>G
XR_001748870.2:n.7477A>G
NM_025114.4:c.6272A>G MANE Select	NP_079390.3:p.Asn2091Ser