Canonical Allele Identifier: CA1312585

Gene: CRB1

Linked Data

• dbSNP Id: rs769207195
• ExAC: 1:197447060 C / A
• gnomAD v2: 1-197447060-C-A
• gnomAD v4: 1-197477930-C-A
• MyVariant Identifiers: chr1:g.197447060C>A (hg19) ; chr1:g.197477930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477930C>A , CM000663.2:g.197477930C>A	GRCh38
NC_000001.10:g.197447060C>A , CM000663.1:g.197447060C>A	GRCh37
NC_000001.9:g.195713683C>A	NCBI36
NG_008483.1:g.214653C>A
NG_008483.2:g.281469C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*51C>A MANE Select	ENSP00000356370.3:n.*51C>A
ENST00000367400.7:c.*51C>A	ENSP00000356370.3:n.*51C>A
ENST00000448952.1:c.506C>A	ENSP00000395407.1:n.506C>A
ENST00000484075.5:c.*383C>A	ENSP00000433932.1:n.*383C>A
ENST00000535699.5:c.*51C>A	ENSP00000438786.1:n.*51C>A
ENST00000538660.5:c.*51C>A	ENSP00000438091.1:n.*51C>A
NM_001193640.1:c.*51C>A	NP_001180569.1:n.*51C>A
NM_001257965.1:c.*51C>A	NP_001244894.1:n.*51C>A
NM_001257966.1:c.*51C>A	NP_001244895.1:n.*51C>A
NM_201253.2:c.*51C>A	NP_957705.1:n.*51C>A
NR_047563.1:n.4273C>A
NR_047564.1:n.4723C>A
XM_011509366.1:c.*377C>A	XP_011507668.1:n.*377C>A
XM_011509367.1:c.*251C>A	XP_011507669.1:n.*251C>A
XM_011509368.1:c.*51C>A	XP_011507670.1:n.*51C>A
XM_011509369.1:c.*51C>A	XP_011507671.1:n.*51C>A
XM_011509369.2:c.*51C>A	XP_011507671.1:n.*51C>A
XM_017000851.1:c.*51C>A	XP_016856340.1:n.*51C>A
XM_017000852.1:c.*51C>A	XP_016856341.1:n.*51C>A
NM_201253.3:c.*51C>A MANE Select	NP_957705.1:n.*51C>A
NM_001193640.2:c.*51C>A	NP_001180569.1:n.*51C>A
NM_001257965.2:c.*51C>A	NP_001244894.1:n.*51C>A
NR_047563.2:n.4225C>A
NR_047564.2:n.4675C>A
NM_001257966.2:c.*51C>A	NP_001244895.1:n.*51C>A