Canonical Allele Identifier: CA1218068646

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434729G= , CM000663.2:g.197434729G=	GRCh38
NC_000001.10:g.197403859G= , CM000663.1:g.197403859G=	GRCh37
NC_000001.9:g.195670482G=	NCBI36
NG_008483.1:g.171452G=
NG_008483.2:g.238268G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2866G= MANE Select	ENSP00000356370.3:p.Gly956=
ENST00000638467.1:c.2866G=	ENSP00000491102.1:p.Gly956=
ENST00000681519.1:c.1747G=	ENSP00000505267.1:p.Gly583=
ENST00000367397.1:c.1009G=	ENSP00000356367.1:p.Gly337=
ENST00000367399.6:c.2530G=	ENSP00000356369.2:p.Gly844=
ENST00000367400.7:c.2866G=	ENSP00000356370.3:p.Gly956=
ENST00000484075.5:c.2866G=	ENSP00000433932.1:p.Gly956=
ENST00000535699.5:c.2794G=	ENSP00000438786.1:p.Gly932=
ENST00000538660.5:c.2129-871G=	ENSP00000438091.1:n.2129-871G=
NM_001193640.1:c.2530G=	NP_001180569.1:p.Gly844=
NM_001257965.1:c.2794G=	NP_001244894.1:p.Gly932=
NM_001257966.1:c.2129-871G=	NP_001244895.1:n.2129-871G=
NM_201253.2:c.2866G=	NP_957705.1:p.Gly956=
NR_047563.1:n.2867G=
NR_047564.1:n.3075G=
XM_011509365.1:c.2866G=	XP_011507667.1:p.Gly956=
XM_011509366.1:c.2866G=	XP_011507668.1:p.Gly956=
XM_011509367.1:c.2866G=	XP_011507669.1:p.Gly956=
XM_011509368.1:c.2284G=	XP_011507670.1:p.Gly762=
XM_011509369.1:c.1309G=	XP_011507671.1:p.Gly437=
XM_011509365.2:c.2866G=	XP_011507667.1:p.Gly956=
XM_011509369.2:c.1309G=	XP_011507671.1:p.Gly437=
XM_017000851.1:c.2023G=	XP_016856340.1:p.Gly675=
XM_017000852.1:c.3001G=	XP_016856341.1:p.Gly1001=
NM_201253.3:c.2866G= MANE Select	NP_957705.1:p.Gly956=
NM_001193640.2:c.2530G=	NP_001180569.1:p.Gly844=
NM_001257965.2:c.2794G=	NP_001244894.1:p.Gly932=
NR_047563.2:n.2819G=
NR_047564.2:n.3027G=
NM_001257966.2:c.2129-871G=	NP_001244895.1:n.2129-871G=