Canonical Allele Identifier: CA1218066090

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427628A= , CM000663.2:g.197427628A=	GRCh38
NC_000001.10:g.197396758A= , CM000663.1:g.197396758A=	GRCh37
NC_000001.9:g.195663381A=	NCBI36
NG_008483.1:g.164351A=
NG_008483.2:g.231167A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2303A= MANE Select	ENSP00000356370.3:p.Glu768=
ENST00000638467.1:c.2303A=	ENSP00000491102.1:p.Glu768=
ENST00000681519.1:c.1184A=	ENSP00000505267.1:p.Glu395=
ENST00000367397.1:c.446A=	ENSP00000356367.1:p.Glu149=
ENST00000367399.6:c.1967A=	ENSP00000356369.2:p.Glu656=
ENST00000367400.7:c.2303A=	ENSP00000356370.3:p.Glu768=
ENST00000480086.2:n.204A=
ENST00000484075.5:c.2303A=	ENSP00000433932.1:p.Glu768=
ENST00000535699.5:c.2096A=	ENSP00000438786.1:p.Glu699=
ENST00000538660.5:c.2128+5672A=	ENSP00000438091.1:n.2128+5672A=
NM_001193640.1:c.1967A=	NP_001180569.1:p.Glu656=
NM_001257965.1:c.2096A=	NP_001244894.1:p.Glu699=
NM_001257966.1:c.2128+5672A=	NP_001244895.1:n.2128+5672A=
NM_201253.2:c.2303A=	NP_957705.1:p.Glu768=
NR_047563.1:n.2304A=
NR_047564.1:n.2512A=
XM_011509365.1:c.2303A=	XP_011507667.1:p.Glu768=
XM_011509366.1:c.2303A=	XP_011507668.1:p.Glu768=
XM_011509367.1:c.2303A=	XP_011507669.1:p.Glu768=
XM_011509368.1:c.1721A=	XP_011507670.1:p.Glu574=
XM_011509369.1:c.746A=	XP_011507671.1:p.Glu249=
XM_011509365.2:c.2303A=	XP_011507667.1:p.Glu768=
XM_011509369.2:c.746A=	XP_011507671.1:p.Glu249=
XM_017000851.1:c.1460A=	XP_016856340.1:p.Glu487=
XM_017000852.1:c.2303A=	XP_016856341.1:p.Glu768=
NM_201253.3:c.2303A= MANE Select	NP_957705.1:p.Glu768=
NM_001193640.2:c.1967A=	NP_001180569.1:p.Glu656=
NM_001257965.2:c.2096A=	NP_001244894.1:p.Glu699=
NR_047563.2:n.2256A=
NR_047564.2:n.2464A=
NM_001257966.2:c.2128+5672A=	NP_001244895.1:n.2128+5672A=