Canonical Allele Identifier: CA1218087214

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477674A= , CM000663.2:g.197477674A=	GRCh38
NC_000001.10:g.197446804A= , CM000663.1:g.197446804A=	GRCh37
NC_000001.9:g.195713427A=	NCBI36
NG_008483.1:g.214397A=
NG_008483.2:g.281213A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4016A= MANE Select	ENSP00000356370.3:p.Asp1339=
ENST00000367399.6:c.3680A=	ENSP00000356369.2:p.Asp1227=
ENST00000367400.7:c.4016A=	ENSP00000356370.3:p.Asp1339=
ENST00000448952.1:c.250A=	ENSP00000395407.1:n.250A=
ENST00000484075.5:c.*127A=	ENSP00000433932.1:n.*127A=
ENST00000535699.5:c.3944A=	ENSP00000438786.1:p.Asp1315=
ENST00000538660.5:c.2408A=	ENSP00000438091.1:p.Asp803=
NM_001193640.1:c.3680A=	NP_001180569.1:p.Asp1227=
NM_001257965.1:c.3944A=	NP_001244894.1:p.Asp1315=
NM_001257966.1:c.2408A=	NP_001244895.1:p.Asp803=
NM_201253.2:c.4016A=	NP_957705.1:p.Asp1339=
NR_047563.1:n.4017A=
NR_047564.1:n.4467A=
XM_011509366.1:c.*121A=	XP_011507668.1:n.*121A=
XM_011509367.1:c.3889A=	XP_011507669.1:p.Thr1297=
XM_011509368.1:c.3434A=	XP_011507670.1:p.Asp1145=
XM_011509369.1:c.2459A=	XP_011507671.1:p.Asp820=
XM_011509369.2:c.2459A=	XP_011507671.1:p.Asp820=
XM_017000851.1:c.3173A=	XP_016856340.1:p.Asp1058=
XM_017000852.1:c.4151A=	XP_016856341.1:p.Asp1384=
NM_201253.3:c.4016A= MANE Select	NP_957705.1:p.Asp1339=
NM_001193640.2:c.3680A=	NP_001180569.1:p.Asp1227=
NM_001257965.2:c.3944A=	NP_001244894.1:p.Asp1315=
NR_047563.2:n.3969A=
NR_047564.2:n.4419A=
NM_001257966.2:c.2408A=	NP_001244895.1:p.Asp803=