Canonical Allele Identifier: CA1218087361

Gene: CRB1

Linked Data

• dbSNP Id: rs1667278819
• gnomAD v4: 1-197478052-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478052A>G , CM000663.2:g.197478052A>G	GRCh38
NC_000001.10:g.197447182A>G , CM000663.1:g.197447182A>G	GRCh37
NC_000001.9:g.195713805A>G	NCBI36
NG_008483.1:g.214775A>G
NG_008483.2:g.281591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*173A>G MANE Select	ENSP00000356370.3:n.*173A>G
ENST00000367400.7:c.*173A>G	ENSP00000356370.3:n.*173A>G
ENST00000448952.1:c.628A>G	ENSP00000395407.1:n.628A>G
ENST00000484075.5:c.*505A>G	ENSP00000433932.1:n.*505A>G
ENST00000535699.5:c.*173A>G	ENSP00000438786.1:n.*173A>G
ENST00000538660.5:c.*173A>G	ENSP00000438091.1:n.*173A>G
NM_001193640.1:c.*173A>G	NP_001180569.1:n.*173A>G
NM_001257965.1:c.*173A>G	NP_001244894.1:n.*173A>G
NM_001257966.1:c.*173A>G	NP_001244895.1:n.*173A>G
NM_201253.2:c.*173A>G	NP_957705.1:n.*173A>G
NR_047563.1:n.4395A>G
NR_047564.1:n.4845A>G
XM_011509366.1:c.*499A>G	XP_011507668.1:n.*499A>G
XM_011509367.1:c.*373A>G	XP_011507669.1:n.*373A>G
XM_011509368.1:c.*173A>G	XP_011507670.1:n.*173A>G
XM_011509369.1:c.*173A>G	XP_011507671.1:n.*173A>G
XM_011509369.2:c.*173A>G	XP_011507671.1:n.*173A>G
XM_017000851.1:c.*173A>G	XP_016856340.1:n.*173A>G
XM_017000852.1:c.*173A>G	XP_016856341.1:n.*173A>G
NM_201253.3:c.*173A>G MANE Select	NP_957705.1:n.*173A>G
NM_001193640.2:c.*173A>G	NP_001180569.1:n.*173A>G
NM_001257965.2:c.*173A>G	NP_001244894.1:n.*173A>G
NR_047563.2:n.4347A>G
NR_047564.2:n.4797A>G
NM_001257966.2:c.*173A>G	NP_001244895.1:n.*173A>G