Canonical Allele Identifier: CA385972587

Gene: CEP290 RLIG1

Linked Data

• gnomAD v4: 12-88049313-C-G
• MyVariant Identifiers: chr12:g.88443090C>G (hg19) ; chr12:g.88049313C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88049313C>G , CM000674.2:g.88049313C>G	GRCh38
NC_000012.11:g.88443090C>G , CM000674.1:g.88443090C>G	GRCh37
NC_000012.10:g.86967221C>G	NCBI36
NG_008417.1:g.97904G>C
NG_008417.2:g.97904G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.7320G>C (CEP290)	ENSP00000308021.8:p.Lys2440Asn
ENST00000356891.4:c.*891C>G (RLIG1) MANE Select	ENSP00000349358.3:n.*891C>G
ENST00000547691.8:c.4280G>C (CEP290)
ENST00000552810.6:c.7311G>C (CEP290) MANE Select	ENSP00000448012.1:p.Lys2437Asn
ENST00000671777.2:n.1090G>C (CEP290)
ENST00000672414.2:c.*5317G>C (CEP290)	ENSP00000500729.1:n.*5317G>C
ENST00000672647.1:n.5671G>C (CEP290)
ENST00000673058.2:c.7188G>C (CEP290)	ENSP00000500665.2:p.Lys2396Asn
ENST00000674712.1:n.838G>C (CEP290)
ENST00000674889.1:n.4264G>C (CEP290)
ENST00000674971.1:c.*268G>C (CEP290)	ENSP00000502194.1:n.*268G>C
ENST00000675230.1:c.7290G>C (CEP290)	ENSP00000502503.1:p.Lys2430Asn
ENST00000675408.1:c.7146G>C (CEP290)	ENSP00000502298.1:p.Lys2382Asn
ENST00000675476.1:c.8172G>C (CEP290)	ENSP00000502161.1:p.Lys2724Asn
ENST00000675628.1:n.9293G>C (CEP290)
ENST00000675794.1:c.*5482G>C (CEP290)	ENSP00000502841.1:n.*5482G>C
ENST00000675833.1:c.8079G>C (CEP290)	ENSP00000502559.1:p.Lys2693Asn
ENST00000675894.1:n.3616G>C (CEP290)
ENST00000676074.1:c.*268G>C (CEP290)	ENSP00000502079.1:n.*268G>C
ENST00000676181.1:n.7994G>C (CEP290)
ENST00000676190.1:n.3505G>C (CEP290)
ENST00000676363.1:n.13037G>C (CEP290)
ENST00000309041.11:c.7317G>C (CEP290)	ENSP00000308021.7:p.Lys2439Asn
ENST00000356891.3:c.*891C>G (RLIG1)	ENSP00000349358.3:n.*891C>G
ENST00000547691.6:c.4491G>C (CEP290)	ENSP00000446905.1:p.Lys1497Asn
ENST00000550333.5:c.*1634C>G (RLIG1)	ENSP00000448194.1:n.*1634C>G
ENST00000552810.5:c.7311G>C (CEP290)	ENSP00000448012.1:p.Lys2437Asn
NM_001009894.2:c.*891C>G (RLIG1)	NP_001009894.2:n.*891C>G
NM_025114.3:c.7311G>C (CEP290)	NP_079390.3:p.Lys2437Asn
XM_011538756.1:c.8181G>C (CEP290)	XP_011537058.1:p.Lys2727Asn
XM_011538757.1:c.8181G>C (CEP290)	XP_011537059.1:p.Lys2727Asn
XM_011538758.1:c.8178G>C (CEP290)	XP_011537060.1:p.Lys2726Asn
XM_011538759.1:c.8172G>C (CEP290)	XP_011537061.1:p.Lys2724Asn
XM_011538760.1:c.8058G>C (CEP290)	XP_011537062.1:p.Lys2686Asn
XM_011538761.1:c.8016G>C (CEP290)	XP_011537063.1:p.Lys2672Asn
XM_011538762.1:c.7413G>C (CEP290)	XP_011537064.1:p.Lys2471Asn
XM_011538763.1:c.7320G>C (CEP290)	XP_011537065.1:p.Lys2440Asn
XM_011538766.1:c.6642G>C (CEP290)	XP_011537068.1:p.Lys2214Asn
XM_011538756.3:c.8181G>C (CEP290)	XP_011537058.1:p.Lys2727Asn
XM_011538757.3:c.8181G>C (CEP290)	XP_011537059.1:p.Lys2727Asn
XM_011538758.3:c.8178G>C (CEP290)	XP_011537060.1:p.Lys2726Asn
XM_011538759.2:c.8172G>C (CEP290)	XP_011537061.1:p.Lys2724Asn
XM_011538760.2:c.8058G>C (CEP290)	XP_011537062.1:p.Lys2686Asn
XM_011538761.2:c.8016G>C (CEP290)	XP_011537063.1:p.Lys2672Asn
XM_011538762.3:c.7413G>C (CEP290)	XP_011537064.1:p.Lys2471Asn
XM_011538763.3:c.7320G>C (CEP290)	XP_011537065.1:p.Lys2440Asn
XM_011538766.3:c.6642G>C (CEP290)	XP_011537068.1:p.Lys2214Asn
XM_017019980.2:c.8049G>C (CEP290)	XP_016875469.1:p.Lys2683Asn
XM_017019981.2:c.8007G>C (CEP290)	XP_016875470.1:p.Lys2669Asn
XM_017019983.2:c.7299G>C (CEP290)	XP_016875472.1:p.Lys2433Asn
NM_001009894.3:c.*891C>G (RLIG1) MANE Select	NP_001009894.2:n.*891C>G
NM_025114.4:c.7311G>C (CEP290) MANE Select	NP_079390.3:p.Lys2437Asn