Canonical Allele Identifier: CA1140762941

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427615C= , CM000663.2:g.197427615C=	GRCh38
NC_000001.10:g.197396745C= , CM000663.1:g.197396745C=	GRCh37
NC_000001.9:g.195663368C=	NCBI36
NG_008483.1:g.164338C=
NG_008483.2:g.231154C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2290C= MANE Select	ENSP00000356370.3:p.Arg764=
ENST00000638467.1:c.2290C=	ENSP00000491102.1:p.Arg764=
ENST00000681519.1:c.1171C=	ENSP00000505267.1:p.Arg391=
ENST00000367397.1:c.433C=	ENSP00000356367.1:p.Arg145=
ENST00000367399.6:c.1954C=	ENSP00000356369.2:p.Arg652=
ENST00000367400.7:c.2290C=	ENSP00000356370.3:p.Arg764=
ENST00000480086.2:n.191C=
ENST00000484075.5:c.2290C=	ENSP00000433932.1:p.Arg764=
ENST00000535699.5:c.2083C=	ENSP00000438786.1:p.Arg695=
ENST00000538660.5:c.2128+5659C=	ENSP00000438091.1:n.2128+5659C=
NM_001193640.1:c.1954C=	NP_001180569.1:p.Arg652=
NM_001257965.1:c.2083C=	NP_001244894.1:p.Arg695=
NM_001257966.1:c.2128+5659C=	NP_001244895.1:n.2128+5659C=
NM_201253.2:c.2290C=	NP_957705.1:p.Arg764=
NR_047563.1:n.2291C=
NR_047564.1:n.2499C=
XM_011509365.1:c.2290C=	XP_011507667.1:p.Arg764=
XM_011509366.1:c.2290C=	XP_011507668.1:p.Arg764=
XM_011509367.1:c.2290C=	XP_011507669.1:p.Arg764=
XM_011509368.1:c.1708C=	XP_011507670.1:p.Arg570=
XM_011509369.1:c.733C=	XP_011507671.1:p.Arg245=
XM_011509365.2:c.2290C=	XP_011507667.1:p.Arg764=
XM_011509369.2:c.733C=	XP_011507671.1:p.Arg245=
XM_017000851.1:c.1447C=	XP_016856340.1:p.Arg483=
XM_017000852.1:c.2290C=	XP_016856341.1:p.Arg764=
NM_201253.3:c.2290C= MANE Select	NP_957705.1:p.Arg764=
NM_001193640.2:c.1954C=	NP_001180569.1:p.Arg652=
NM_001257965.2:c.2083C=	NP_001244894.1:p.Arg695=
NR_047563.2:n.2243C=
NR_047564.2:n.2451C=
NM_001257966.2:c.2128+5659C=	NP_001244895.1:n.2128+5659C=