Canonical Allele Identifier: CA1141226017

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477688A= , CM000663.2:g.197477688A=	GRCh38
NC_000001.10:g.197446818A= , CM000663.1:g.197446818A=	GRCh37
NC_000001.9:g.195713441A=	NCBI36
NG_008483.1:g.214411A=
NG_008483.2:g.281227A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4030A= MANE Select	ENSP00000356370.3:p.Ile1344=
ENST00000367399.6:c.3694A=	ENSP00000356369.2:p.Ile1232=
ENST00000367400.7:c.4030A=	ENSP00000356370.3:p.Ile1344=
ENST00000448952.1:c.264A=	ENSP00000395407.1:n.264A=
ENST00000484075.5:c.*141A=	ENSP00000433932.1:n.*141A=
ENST00000535699.5:c.3958A=	ENSP00000438786.1:p.Ile1320=
ENST00000538660.5:c.2422A=	ENSP00000438091.1:p.Ile808=
NM_001193640.1:c.3694A=	NP_001180569.1:p.Ile1232=
NM_001257965.1:c.3958A=	NP_001244894.1:p.Ile1320=
NM_001257966.1:c.2422A=	NP_001244895.1:p.Ile808=
NM_201253.2:c.4030A=	NP_957705.1:p.Ile1344=
NR_047563.1:n.4031A=
NR_047564.1:n.4481A=
XM_011509366.1:c.*135A=	XP_011507668.1:n.*135A=
XM_011509367.1:c.*9A=	XP_011507669.1:n.*9A=
XM_011509368.1:c.3448A=	XP_011507670.1:p.Ile1150=
XM_011509369.1:c.2473A=	XP_011507671.1:p.Ile825=
XM_011509369.2:c.2473A=	XP_011507671.1:p.Ile825=
XM_017000851.1:c.3187A=	XP_016856340.1:p.Ile1063=
XM_017000852.1:c.4165A=	XP_016856341.1:p.Ile1389=
NM_201253.3:c.4030A= MANE Select	NP_957705.1:p.Ile1344=
NM_001193640.2:c.3694A=	NP_001180569.1:p.Ile1232=
NM_001257965.2:c.3958A=	NP_001244894.1:p.Ile1320=
NR_047563.2:n.3983A=
NR_047564.2:n.4433A=
NM_001257966.2:c.2422A=	NP_001244895.1:p.Ile808=