Canonical Allele Identifier: CA1312561

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477806G>A , CM000663.2:g.197477806G>A	GRCh38
NC_000001.10:g.197446936G>A , CM000663.1:g.197446936G>A	GRCh37
NC_000001.9:g.195713559G>A	NCBI36
NG_008483.1:g.214529G>A
NG_008483.2:g.281345G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.4148G>A MANE Select	NP_957705.1:p.Arg1383His
ENST00000367400.8:c.4148G>A MANE Select	ENSP00000356370.3:p.Arg1383His
NM_001193640.1:c.3812G>A	NP_001180569.1:p.Arg1271His
NM_001193640.2:c.3812G>A	NP_001180569.1:p.Arg1271His
NM_001257965.1:c.4076G>A	NP_001244894.1:p.Arg1359His
NM_001257965.2:c.4076G>A	NP_001244894.1:p.Arg1359His
NM_001257966.1:c.2540G>A	NP_001244895.1:p.Arg847His
NM_001257966.2:c.2540G>A	NP_001244895.1:p.Arg847His
NM_201253.2:c.4148G>A	NP_957705.1:p.Arg1383His
NR_047563.1:n.4149G>A
NR_047563.2:n.4101G>A
NR_047564.1:n.4599G>A
NR_047564.2:n.4551G>A
ENST00000367399.6:c.3812G>A	ENSP00000356369.2:p.Arg1271His
ENST00000367400.7:c.4148G>A	ENSP00000356370.3:p.Arg1383His
ENST00000448952.1:c.382G>A	ENSP00000395407.1:n.382G>A
ENST00000484075.5:c.*259G>A	ENSP00000433932.1:n.*259G>A
ENST00000535699.5:c.4076G>A	ENSP00000438786.1:p.Arg1359His
ENST00000538660.5:c.2540G>A	ENSP00000438091.1:p.Arg847His
XM_011509366.1:c.*253G>A	XP_011507668.1:n.*253G>A
XM_011509367.1:c.*127G>A	XP_011507669.1:n.*127G>A
XM_011509368.1:c.3566G>A	XP_011507670.1:p.Arg1189His
XM_011509369.1:c.2591G>A	XP_011507671.1:p.Arg864His
XM_011509369.2:c.2591G>A	XP_011507671.1:p.Arg864His
XM_017000851.1:c.3305G>A	XP_016856340.1:p.Arg1102His
XM_017000852.1:c.4283G>A	XP_016856341.1:p.Arg1428His