Canonical Allele Identifier: CA1218087294

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477869G= , CM000663.2:g.197477869G=	GRCh38
NC_000001.10:g.197446999G= , CM000663.1:g.197446999G=	GRCh37
NC_000001.9:g.195713622G=	NCBI36
NG_008483.1:g.214592G=
NG_008483.2:g.281408G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4211G= MANE Select	ENSP00000356370.3:p.Arg1404=
ENST00000367399.6:c.3875G=	ENSP00000356369.2:p.Arg1292=
ENST00000367400.7:c.4211G=	ENSP00000356370.3:p.Arg1404=
ENST00000448952.1:c.445G=	ENSP00000395407.1:n.445G=
ENST00000484075.5:c.*322G=	ENSP00000433932.1:n.*322G=
ENST00000535699.5:c.4139G=	ENSP00000438786.1:p.Arg1380=
ENST00000538660.5:c.2603G=	ENSP00000438091.1:p.Arg868=
NM_001193640.1:c.3875G=	NP_001180569.1:p.Arg1292=
NM_001257965.1:c.4139G=	NP_001244894.1:p.Arg1380=
NM_001257966.1:c.2603G=	NP_001244895.1:p.Arg868=
NM_201253.2:c.4211G=	NP_957705.1:p.Arg1404=
NR_047563.1:n.4212G=
NR_047564.1:n.4662G=
XM_011509366.1:c.*316G=	XP_011507668.1:n.*316G=
XM_011509367.1:c.*190G=	XP_011507669.1:n.*190G=
XM_011509368.1:c.3629G=	XP_011507670.1:p.Arg1210=
XM_011509369.1:c.2654G=	XP_011507671.1:p.Arg885=
XM_011509369.2:c.2654G=	XP_011507671.1:p.Arg885=
XM_017000851.1:c.3368G=	XP_016856340.1:p.Arg1123=
XM_017000852.1:c.4346G=	XP_016856341.1:p.Arg1449=
NM_201253.3:c.4211G= MANE Select	NP_957705.1:p.Arg1404=
NM_001193640.2:c.3875G=	NP_001180569.1:p.Arg1292=
NM_001257965.2:c.4139G=	NP_001244894.1:p.Arg1380=
NR_047563.2:n.4164G=
NR_047564.2:n.4614G=
NM_001257966.2:c.2603G=	NP_001244895.1:p.Arg868=