Canonical Allele Identifier: CA481067543
Gene: CEP290 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.88456553A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88062776A>G , CM000674.2:g.88062776A>G GRCh38
NC_000012.11:g.88456553A>G , CM000674.1:g.88456553A>G GRCh37
NC_000012.10:g.86980684A>G NCBI36
NG_008417.1:g.84441T>C
NG_008417.2:g.84441T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.6282T>C ENSP00000308021.8:p.Asn2094=
ENST00000547691.8:c.3557T>C
ENST00000552810.6:c.6273T>C MANE Select ENSP00000448012.1:p.Asn2091=
ENST00000672414.2:c.*4444T>C ENSP00000500729.1:n.*4444T>C
ENST00000672647.1:n.4633T>C
ENST00000673058.2:c.6273T>C ENSP00000500665.2:p.Asn2091=
ENST00000674889.1:n.3226T>C
ENST00000674971.1:c.6273T>C ENSP00000502194.1:p.Asn2091=
ENST00000675230.1:c.6252T>C ENSP00000502503.1:p.Asn2084=
ENST00000675408.1:c.6273T>C ENSP00000502298.1:p.Asn2091=
ENST00000675476.1:c.7134T>C ENSP00000502161.1:p.Asn2378=
ENST00000675628.1:n.6500T>C
ENST00000675794.1:c.*4444T>C ENSP00000502841.1:n.*4444T>C
ENST00000675833.1:c.7041T>C ENSP00000502559.1:p.Asn2347=
ENST00000675894.1:n.2578T>C
ENST00000676074.1:c.6273T>C ENSP00000502079.1:p.Asn2091=
ENST00000676181.1:n.5201T>C
ENST00000676190.1:n.712T>C
ENST00000676363.1:n.11999T>C
ENST00000309041.11:c.6279T>C ENSP00000308021.7:p.Asn2093=
ENST00000547691.6:c.3453T>C ENSP00000446905.1:p.Asn1151=
ENST00000552810.5:c.6273T>C ENSP00000448012.1:p.Asn2091=
NM_025114.3:c.6273T>C NP_079390.3:p.Asn2091=
XM_011538756.1:c.7143T>C XP_011537058.1:p.Asn2381=
XM_011538757.1:c.7143T>C XP_011537059.1:p.Asn2381=
XM_011538758.1:c.7140T>C XP_011537060.1:p.Asn2380=
XM_011538759.1:c.7134T>C XP_011537061.1:p.Asn2378=
XM_011538760.1:c.7143T>C XP_011537062.1:p.Asn2381=
XM_011538761.1:c.7143T>C XP_011537063.1:p.Asn2381=
XM_011538762.1:c.6375T>C XP_011537064.1:p.Asn2125=
XM_011538763.1:c.6282T>C XP_011537065.1:p.Asn2094=
XM_011538766.1:c.5604T>C XP_011537068.1:p.Asn1868=
XR_945163.1:n.967+5756A>G
XM_011538756.3:c.7143T>C XP_011537058.1:p.Asn2381=
XM_011538757.3:c.7143T>C XP_011537059.1:p.Asn2381=
XM_011538758.3:c.7140T>C XP_011537060.1:p.Asn2380=
XM_011538759.2:c.7134T>C XP_011537061.1:p.Asn2378=
XM_011538760.2:c.7143T>C XP_011537062.1:p.Asn2381=
XM_011538761.2:c.7143T>C XP_011537063.1:p.Asn2381=
XM_011538762.3:c.6375T>C XP_011537064.1:p.Asn2125=
XM_011538763.3:c.6282T>C XP_011537065.1:p.Asn2094=
XM_011538766.3:c.5604T>C XP_011537068.1:p.Asn1868=
XM_017019980.2:c.7134T>C XP_016875469.1:p.Asn2378=
XM_017019981.2:c.7134T>C XP_016875470.1:p.Asn2378=
XM_017019982.1:c.7143T>C XP_016875471.1:p.Asn2381=
XM_017019983.2:c.6261T>C XP_016875472.1:p.Asn2087=
XR_001748869.1:n.7478T>C
XR_001748870.2:n.7478T>C
NM_025114.4:c.6273T>C MANE Select NP_079390.3:p.Asn2091=