Canonical Allele Identifier: CA1311961

Gene: CRB1

Linked Data

• dbSNP Id: rs756039000
• ExAC: 1:197390661 A / G
• gnomAD v2: 1-197390661-A-G
• gnomAD v4: 1-197421531-A-G
• MyVariant Identifiers: chr1:g.197390661A>G (hg19) ; chr1:g.197421531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421531A>G , CM000663.2:g.197421531A>G	GRCh38
NC_000001.10:g.197390661A>G , CM000663.1:g.197390661A>G	GRCh37
NC_000001.9:g.195657284A>G	NCBI36
NG_008483.1:g.158254A>G
NG_008483.2:g.225070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1703A>G MANE Select	ENSP00000356370.3:p.His568Arg
ENST00000638467.1:c.1703A>G	ENSP00000491102.1:p.His568Arg
ENST00000681519.1:c.584A>G	ENSP00000505267.1:p.His195Arg
ENST00000367397.1:c.-155A>G	ENSP00000356367.1:n.-155A>G
ENST00000367399.6:c.1367A>G	ENSP00000356369.2:p.His456Arg
ENST00000367400.7:c.1703A>G	ENSP00000356370.3:p.His568Arg
ENST00000484075.5:c.1703A>G	ENSP00000433932.1:p.His568Arg
ENST00000535699.5:c.1496A>G	ENSP00000438786.1:p.His499Arg
ENST00000538660.5:c.1703A>G	ENSP00000438091.1:p.His568Arg
NM_001193640.1:c.1367A>G	NP_001180569.1:p.His456Arg
NM_001257965.1:c.1496A>G	NP_001244894.1:p.His499Arg
NM_001257966.1:c.1703A>G	NP_001244895.1:p.His568Arg
NM_201253.2:c.1703A>G	NP_957705.1:p.His568Arg
NR_047563.1:n.1912A>G
NR_047564.1:n.1912A>G
XM_011509365.1:c.1703A>G	XP_011507667.1:p.His568Arg
XM_011509366.1:c.1703A>G	XP_011507668.1:p.His568Arg
XM_011509367.1:c.1703A>G	XP_011507669.1:p.His568Arg
XM_011509368.1:c.1121A>G	XP_011507670.1:p.His374Arg
XM_011509369.1:c.146A>G	XP_011507671.1:p.His49Arg
XM_011509365.2:c.1703A>G	XP_011507667.1:p.His568Arg
XM_011509369.2:c.146A>G	XP_011507671.1:p.His49Arg
XM_017000851.1:c.860A>G	XP_016856340.1:p.His287Arg
XM_017000852.1:c.1703A>G	XP_016856341.1:p.His568Arg
NM_201253.3:c.1703A>G MANE Select	NP_957705.1:p.His568Arg
NM_001193640.2:c.1367A>G	NP_001180569.1:p.His456Arg
NM_001257965.2:c.1496A>G	NP_001244894.1:p.His499Arg
NR_047563.2:n.1864A>G
NR_047564.2:n.1864A>G
NM_001257966.2:c.1703A>G	NP_001244895.1:p.His568Arg