Canonical Allele Identifier: CA1218087260

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477798C= , CM000663.2:g.197477798C=	GRCh38
NC_000001.10:g.197446928C= , CM000663.1:g.197446928C=	GRCh37
NC_000001.9:g.195713551C=	NCBI36
NG_008483.1:g.214521C=
NG_008483.2:g.281337C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4140C= MANE Select	ENSP00000356370.3:p.Ser1380=
ENST00000367399.6:c.3804C=	ENSP00000356369.2:p.Ser1268=
ENST00000367400.7:c.4140C=	ENSP00000356370.3:p.Ser1380=
ENST00000448952.1:c.374C=	ENSP00000395407.1:n.374C=
ENST00000484075.5:c.*251C=	ENSP00000433932.1:n.*251C=
ENST00000535699.5:c.4068C=	ENSP00000438786.1:p.Ser1356=
ENST00000538660.5:c.2532C=	ENSP00000438091.1:p.Ser844=
NM_001193640.1:c.3804C=	NP_001180569.1:p.Ser1268=
NM_001257965.1:c.4068C=	NP_001244894.1:p.Ser1356=
NM_001257966.1:c.2532C=	NP_001244895.1:p.Ser844=
NM_201253.2:c.4140C=	NP_957705.1:p.Ser1380=
NR_047563.1:n.4141C=
NR_047564.1:n.4591C=
XM_011509366.1:c.*245C=	XP_011507668.1:n.*245C=
XM_011509367.1:c.*119C=	XP_011507669.1:n.*119C=
XM_011509368.1:c.3558C=	XP_011507670.1:p.Ser1186=
XM_011509369.1:c.2583C=	XP_011507671.1:p.Ser861=
XM_011509369.2:c.2583C=	XP_011507671.1:p.Ser861=
XM_017000851.1:c.3297C=	XP_016856340.1:p.Ser1099=
XM_017000852.1:c.4275C=	XP_016856341.1:p.Ser1425=
NM_201253.3:c.4140C= MANE Select	NP_957705.1:p.Ser1380=
NM_001193640.2:c.3804C=	NP_001180569.1:p.Ser1268=
NM_001257965.2:c.4068C=	NP_001244894.1:p.Ser1356=
NR_047563.2:n.4093C=
NR_047564.2:n.4543C=
NM_001257966.2:c.2532C=	NP_001244895.1:p.Ser844=