Canonical Allele Identifier: CA1218087268

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477817G= , CM000663.2:g.197477817G=	GRCh38
NC_000001.10:g.197446947G= , CM000663.1:g.197446947G=	GRCh37
NC_000001.9:g.195713570G=	NCBI36
NG_008483.1:g.214540G=
NG_008483.2:g.281356G=

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.4159G= MANE Select	NP_957705.1:p.Glu1387=
ENST00000367400.8:c.4159G= MANE Select	ENSP00000356370.3:p.Glu1387=
NM_001193640.1:c.3823G=	NP_001180569.1:p.Glu1275=
NM_001193640.2:c.3823G=	NP_001180569.1:p.Glu1275=
NM_001257965.1:c.4087G=	NP_001244894.1:p.Glu1363=
NM_001257965.2:c.4087G=	NP_001244894.1:p.Glu1363=
NM_001257966.1:c.2551G=	NP_001244895.1:p.Glu851=
NM_001257966.2:c.2551G=	NP_001244895.1:p.Glu851=
NM_201253.2:c.4159G=	NP_957705.1:p.Glu1387=
NR_047563.1:n.4160G=
NR_047563.2:n.4112G=
NR_047564.1:n.4610G=
NR_047564.2:n.4562G=
ENST00000367399.6:c.3823G=	ENSP00000356369.2:p.Glu1275=
ENST00000367400.7:c.4159G=	ENSP00000356370.3:p.Glu1387=
ENST00000448952.1:c.393G=	ENSP00000395407.1:n.393G=
ENST00000484075.5:c.*270G=	ENSP00000433932.1:n.*270G=
ENST00000535699.5:c.4087G=	ENSP00000438786.1:p.Glu1363=
ENST00000538660.5:c.2551G=	ENSP00000438091.1:p.Glu851=
XM_011509366.1:c.*264G=	XP_011507668.1:n.*264G=
XM_011509367.1:c.*138G=	XP_011507669.1:n.*138G=
XM_011509368.1:c.3577G=	XP_011507670.1:p.Glu1193=
XM_011509369.1:c.2602G=	XP_011507671.1:p.Glu868=
XM_011509369.2:c.2602G=	XP_011507671.1:p.Glu868=
XM_017000851.1:c.3316G=	XP_016856340.1:p.Glu1106=
XM_017000852.1:c.4294G=	XP_016856341.1:p.Glu1432=