Canonical Allele Identifier: CA1146566608

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421091C= , CM000663.2:g.197421091C=	GRCh38
NC_000001.10:g.197390221C= , CM000663.1:g.197390221C=	GRCh37
NC_000001.9:g.195656844C=	NCBI36
NG_008483.1:g.157814C=
NG_008483.2:g.224630C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1263C= MANE Select	ENSP00000356370.3:p.Cys421=
ENST00000638467.1:c.1263C=	ENSP00000491102.1:p.Cys421=
ENST00000681519.1:c.144C=	ENSP00000505267.1:p.Cys48=
ENST00000367397.1:c.-595C=	ENSP00000356367.1:n.-595C=
ENST00000367399.6:c.927C=	ENSP00000356369.2:p.Cys309=
ENST00000367400.7:c.1263C=	ENSP00000356370.3:p.Cys421=
ENST00000476483.1:n.223C=
ENST00000484075.5:c.1263C=	ENSP00000433932.1:p.Cys421=
ENST00000535699.5:c.1056C=	ENSP00000438786.1:p.Cys352=
ENST00000538660.5:c.1263C=	ENSP00000438091.1:p.Cys421=
NM_001193640.1:c.927C=	NP_001180569.1:p.Cys309=
NM_001257965.1:c.1056C=	NP_001244894.1:p.Cys352=
NM_001257966.1:c.1263C=	NP_001244895.1:p.Cys421=
NM_201253.2:c.1263C=	NP_957705.1:p.Cys421=
NR_047563.1:n.1472C=
NR_047564.1:n.1472C=
XM_011509365.1:c.1263C=	XP_011507667.1:p.Cys421=
XM_011509366.1:c.1263C=	XP_011507668.1:p.Cys421=
XM_011509367.1:c.1263C=	XP_011507669.1:p.Cys421=
XM_011509368.1:c.681C=	XP_011507670.1:p.Cys227=
XM_011509369.1:c.-295C=	XP_011507671.1:n.-295C=
XM_011509365.2:c.1263C=	XP_011507667.1:p.Cys421=
XM_011509369.2:c.-295C=	XP_011507671.1:n.-295C=
XM_017000851.1:c.420C=	XP_016856340.1:p.Cys140=
XM_017000852.1:c.1263C=	XP_016856341.1:p.Cys421=
NM_201253.3:c.1263C= MANE Select	NP_957705.1:p.Cys421=
NM_001193640.2:c.927C=	NP_001180569.1:p.Cys309=
NM_001257965.2:c.1056C=	NP_001244894.1:p.Cys352=
NR_047563.2:n.1424C=
NR_047564.2:n.1424C=
NM_001257966.2:c.1263C=	NP_001244895.1:p.Cys421=