Canonical Allele Identifier: CA1312250

Gene: CRB1

Linked Data

• dbSNP Id: rs758445365
• ExAC: 1:197403919 A / G
• gnomAD v2: 1-197403919-A-G
• MyVariant Identifiers: chr1:g.197403919A>G (hg19) ; chr1:g.197434789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434789A>G , CM000663.2:g.197434789A>G	GRCh38
NC_000001.10:g.197403919A>G , CM000663.1:g.197403919A>G	GRCh37
NC_000001.9:g.195670542A>G	NCBI36
NG_008483.1:g.171512A>G
NG_008483.2:g.238328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2926A>G MANE Select	ENSP00000356370.3:p.Ile976Val
ENST00000638467.1:c.2926A>G	ENSP00000491102.1:p.Ile976Val
ENST00000681519.1:c.1807A>G	ENSP00000505267.1:p.Ile603Val
ENST00000367397.1:c.1069A>G	ENSP00000356367.1:p.Ile357Val
ENST00000367399.6:c.2590A>G	ENSP00000356369.2:p.Ile864Val
ENST00000367400.7:c.2926A>G	ENSP00000356370.3:p.Ile976Val
ENST00000484075.5:c.2926A>G	ENSP00000433932.1:p.Ile976Val
ENST00000535699.5:c.2854A>G	ENSP00000438786.1:p.Ile952Val
ENST00000538660.5:c.2129-811A>G	ENSP00000438091.1:n.2129-811A>G
NM_001193640.1:c.2590A>G	NP_001180569.1:p.Ile864Val
NM_001257965.1:c.2854A>G	NP_001244894.1:p.Ile952Val
NM_001257966.1:c.2129-811A>G	NP_001244895.1:n.2129-811A>G
NM_201253.2:c.2926A>G	NP_957705.1:p.Ile976Val
NR_047563.1:n.2927A>G
NR_047564.1:n.3135A>G
XM_011509365.1:c.2926A>G	XP_011507667.1:p.Ile976Val
XM_011509366.1:c.2926A>G	XP_011507668.1:p.Ile976Val
XM_011509367.1:c.2926A>G	XP_011507669.1:p.Ile976Val
XM_011509368.1:c.2344A>G	XP_011507670.1:p.Ile782Val
XM_011509369.1:c.1369A>G	XP_011507671.1:p.Ile457Val
XM_011509365.2:c.2926A>G	XP_011507667.1:p.Ile976Val
XM_011509369.2:c.1369A>G	XP_011507671.1:p.Ile457Val
XM_017000851.1:c.2083A>G	XP_016856340.1:p.Ile695Val
XM_017000852.1:c.3061A>G	XP_016856341.1:p.Ile1021Val
NM_201253.3:c.2926A>G MANE Select	NP_957705.1:p.Ile976Val
NM_001193640.2:c.2590A>G	NP_001180569.1:p.Ile864Val
NM_001257965.2:c.2854A>G	NP_001244894.1:p.Ile952Val
NR_047563.2:n.2879A>G
NR_047564.2:n.3087A>G
NM_001257966.2:c.2129-811A>G	NP_001244895.1:n.2129-811A>G