Canonical Allele Identifier: CA1141581332

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442284G= , CM000663.2:g.197442284G=	GRCh38
NC_000001.10:g.197411414G= , CM000663.1:g.197411414G=	GRCh37
NC_000001.9:g.195678037G=	NCBI36
NG_008483.1:g.179007G=
NG_008483.2:g.245823G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3997G= MANE Select	ENSP00000356370.3:p.Glu1333=
ENST00000638467.1:c.3997G=	ENSP00000491102.1:p.Glu1333=
ENST00000681519.1:c.2878G=	ENSP00000505267.1:p.Glu960=
ENST00000367397.1:c.*3605G=	ENSP00000356367.1:n.*3605G=
ENST00000367399.6:c.3661G=	ENSP00000356369.2:p.Glu1221=
ENST00000367400.7:c.3997G=	ENSP00000356370.3:p.Glu1333=
ENST00000448952.1:c.115G=	ENSP00000395407.1:p.Glu39=
ENST00000484075.5:c.3997G=	ENSP00000433932.1:p.Glu1333=
ENST00000535699.5:c.3925G=	ENSP00000438786.1:p.Glu1309=
ENST00000538660.5:c.2389G=	ENSP00000438091.1:p.Glu797=
NM_001193640.1:c.3661G=	NP_001180569.1:p.Glu1221=
NM_001257965.1:c.3925G=	NP_001244894.1:p.Glu1309=
NM_001257966.1:c.2389G=	NP_001244895.1:p.Glu797=
NM_201253.2:c.3997G=	NP_957705.1:p.Glu1333=
NR_047563.1:n.3998G=
NR_047564.1:n.4206G=
XM_011509365.1:c.3997G=	XP_011507667.1:p.Glu1333=
XM_011509366.1:c.3997G=	XP_011507668.1:p.Glu1333=
XM_011509367.1:c.3878+3609G=	XP_011507669.1:n.3878+3609G=
XM_011509368.1:c.3415G=	XP_011507670.1:p.Glu1139=
XM_011509369.1:c.2440G=	XP_011507671.1:p.Glu814=
XM_011509365.2:c.3997G=	XP_011507667.1:p.Glu1333=
XM_011509369.2:c.2440G=	XP_011507671.1:p.Glu814=
XM_017000851.1:c.3154G=	XP_016856340.1:p.Glu1052=
XM_017000852.1:c.4132G=	XP_016856341.1:p.Glu1378=
NM_201253.3:c.3997G= MANE Select	NP_957705.1:p.Glu1333=
NM_001193640.2:c.3661G=	NP_001180569.1:p.Glu1221=
NM_001257965.2:c.3925G=	NP_001244894.1:p.Glu1309=
NR_047563.2:n.3950G=
NR_047564.2:n.4158G=
NM_001257966.2:c.2389G=	NP_001244895.1:p.Glu797=