Canonical Allele Identifier: CA1148301556

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427630C= , CM000663.2:g.197427630C=	GRCh38
NC_000001.10:g.197396760C= , CM000663.1:g.197396760C=	GRCh37
NC_000001.9:g.195663383C=	NCBI36
NG_008483.1:g.164353C=
NG_008483.2:g.231169C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2305C= MANE Select	ENSP00000356370.3:p.Arg769=
ENST00000638467.1:c.2305C=	ENSP00000491102.1:p.Arg769=
ENST00000681519.1:c.1186C=	ENSP00000505267.1:p.Arg396=
ENST00000367397.1:c.448C=	ENSP00000356367.1:p.Arg150=
ENST00000367399.6:c.1969C=	ENSP00000356369.2:p.Arg657=
ENST00000367400.7:c.2305C=	ENSP00000356370.3:p.Arg769=
ENST00000480086.2:n.206C=
ENST00000484075.5:c.2305C=	ENSP00000433932.1:p.Arg769=
ENST00000535699.5:c.2098C=	ENSP00000438786.1:p.Arg700=
ENST00000538660.5:c.2128+5674C=	ENSP00000438091.1:n.2128+5674C=
NM_001193640.1:c.1969C=	NP_001180569.1:p.Arg657=
NM_001257965.1:c.2098C=	NP_001244894.1:p.Arg700=
NM_001257966.1:c.2128+5674C=	NP_001244895.1:n.2128+5674C=
NM_201253.2:c.2305C=	NP_957705.1:p.Arg769=
NR_047563.1:n.2306C=
NR_047564.1:n.2514C=
XM_011509365.1:c.2305C=	XP_011507667.1:p.Arg769=
XM_011509366.1:c.2305C=	XP_011507668.1:p.Arg769=
XM_011509367.1:c.2305C=	XP_011507669.1:p.Arg769=
XM_011509368.1:c.1723C=	XP_011507670.1:p.Arg575=
XM_011509369.1:c.748C=	XP_011507671.1:p.Arg250=
XM_011509365.2:c.2305C=	XP_011507667.1:p.Arg769=
XM_011509369.2:c.748C=	XP_011507671.1:p.Arg250=
XM_017000851.1:c.1462C=	XP_016856340.1:p.Arg488=
XM_017000852.1:c.2305C=	XP_016856341.1:p.Arg769=
NM_201253.3:c.2305C= MANE Select	NP_957705.1:p.Arg769=
NM_001193640.2:c.1969C=	NP_001180569.1:p.Arg657=
NM_001257965.2:c.2098C=	NP_001244894.1:p.Arg700=
NR_047563.2:n.2258C=
NR_047564.2:n.2466C=
NM_001257966.2:c.2128+5674C=	NP_001244895.1:n.2128+5674C=