Canonical Allele Identifier: CA1218087231

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477719C= , CM000663.2:g.197477719C=	GRCh38
NC_000001.10:g.197446849C= , CM000663.1:g.197446849C=	GRCh37
NC_000001.9:g.195713472C=	NCBI36
NG_008483.1:g.214442C=
NG_008483.2:g.281258C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.4061C= MANE Select	ENSP00000356370.3:p.Ala1354=
ENST00000367399.6:c.3725C=	ENSP00000356369.2:p.Ala1242=
ENST00000367400.7:c.4061C=	ENSP00000356370.3:p.Ala1354=
ENST00000448952.1:c.295C=	ENSP00000395407.1:n.295C=
ENST00000484075.5:c.*172C=	ENSP00000433932.1:n.*172C=
ENST00000535699.5:c.3989C=	ENSP00000438786.1:p.Ala1330=
ENST00000538660.5:c.2453C=	ENSP00000438091.1:p.Ala818=
NM_001193640.1:c.3725C=	NP_001180569.1:p.Ala1242=
NM_001257965.1:c.3989C=	NP_001244894.1:p.Ala1330=
NM_001257966.1:c.2453C=	NP_001244895.1:p.Ala818=
NM_201253.2:c.4061C=	NP_957705.1:p.Ala1354=
NR_047563.1:n.4062C=
NR_047564.1:n.4512C=
XM_011509366.1:c.*166C=	XP_011507668.1:n.*166C=
XM_011509367.1:c.*40C=	XP_011507669.1:n.*40C=
XM_011509368.1:c.3479C=	XP_011507670.1:p.Ala1160=
XM_011509369.1:c.2504C=	XP_011507671.1:p.Ala835=
XM_011509369.2:c.2504C=	XP_011507671.1:p.Ala835=
XM_017000851.1:c.3218C=	XP_016856340.1:p.Ala1073=
XM_017000852.1:c.4196C=	XP_016856341.1:p.Ala1399=
NM_201253.3:c.4061C= MANE Select	NP_957705.1:p.Ala1354=
NM_001193640.2:c.3725C=	NP_001180569.1:p.Ala1242=
NM_001257965.2:c.3989C=	NP_001244894.1:p.Ala1330=
NR_047563.2:n.4014C=
NR_047564.2:n.4464C=
NM_001257966.2:c.2453C=	NP_001244895.1:p.Ala818=