Canonical Allele Identifier: CA1218087228

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477704G= , CM000663.2:g.197477704G=	GRCh38
NC_000001.10:g.197446834G= , CM000663.1:g.197446834G=	GRCh37
NC_000001.9:g.195713457G=	NCBI36
NG_008483.1:g.214427G=
NG_008483.2:g.281243G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4046G= MANE Select	ENSP00000356370.3:p.Gly1349=
ENST00000367399.6:c.3710G=	ENSP00000356369.2:p.Gly1237=
ENST00000367400.7:c.4046G=	ENSP00000356370.3:p.Gly1349=
ENST00000448952.1:c.280G=	ENSP00000395407.1:n.280G=
ENST00000484075.5:c.*157G=	ENSP00000433932.1:n.*157G=
ENST00000535699.5:c.3974G=	ENSP00000438786.1:p.Gly1325=
ENST00000538660.5:c.2438G=	ENSP00000438091.1:p.Gly813=
NM_001193640.1:c.3710G=	NP_001180569.1:p.Gly1237=
NM_001257965.1:c.3974G=	NP_001244894.1:p.Gly1325=
NM_001257966.1:c.2438G=	NP_001244895.1:p.Gly813=
NM_201253.2:c.4046G=	NP_957705.1:p.Gly1349=
NR_047563.1:n.4047G=
NR_047564.1:n.4497G=
XM_011509366.1:c.*151G=	XP_011507668.1:n.*151G=
XM_011509367.1:c.*25G=	XP_011507669.1:n.*25G=
XM_011509368.1:c.3464G=	XP_011507670.1:p.Gly1155=
XM_011509369.1:c.2489G=	XP_011507671.1:p.Gly830=
XM_011509369.2:c.2489G=	XP_011507671.1:p.Gly830=
XM_017000851.1:c.3203G=	XP_016856340.1:p.Gly1068=
XM_017000852.1:c.4181G=	XP_016856341.1:p.Gly1394=
NM_201253.3:c.4046G= MANE Select	NP_957705.1:p.Gly1349=
NM_001193640.2:c.3710G=	NP_001180569.1:p.Gly1237=
NM_001257965.2:c.3974G=	NP_001244894.1:p.Gly1325=
NR_047563.2:n.3999G=
NR_047564.2:n.4449G=
NM_001257966.2:c.2438G=	NP_001244895.1:p.Gly813=