Canonical Allele Identifier: CA1218087283

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477843C= , CM000663.2:g.197477843C=	GRCh38
NC_000001.10:g.197446973C= , CM000663.1:g.197446973C=	GRCh37
NC_000001.9:g.195713596C=	NCBI36
NG_008483.1:g.214566C=
NG_008483.2:g.281382C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4185C= MANE Select	ENSP00000356370.3:p.Asn1395=
ENST00000367399.6:c.3849C=	ENSP00000356369.2:p.Asn1283=
ENST00000367400.7:c.4185C=	ENSP00000356370.3:p.Asn1395=
ENST00000448952.1:c.419C=	ENSP00000395407.1:n.419C=
ENST00000484075.5:c.*296C=	ENSP00000433932.1:n.*296C=
ENST00000535699.5:c.4113C=	ENSP00000438786.1:p.Asn1371=
ENST00000538660.5:c.2577C=	ENSP00000438091.1:p.Asn859=
NM_001193640.1:c.3849C=	NP_001180569.1:p.Asn1283=
NM_001257965.1:c.4113C=	NP_001244894.1:p.Asn1371=
NM_001257966.1:c.2577C=	NP_001244895.1:p.Asn859=
NM_201253.2:c.4185C=	NP_957705.1:p.Asn1395=
NR_047563.1:n.4186C=
NR_047564.1:n.4636C=
XM_011509366.1:c.*290C=	XP_011507668.1:n.*290C=
XM_011509367.1:c.*164C=	XP_011507669.1:n.*164C=
XM_011509368.1:c.3603C=	XP_011507670.1:p.Asn1201=
XM_011509369.1:c.2628C=	XP_011507671.1:p.Asn876=
XM_011509369.2:c.2628C=	XP_011507671.1:p.Asn876=
XM_017000851.1:c.3342C=	XP_016856340.1:p.Asn1114=
XM_017000852.1:c.4320C=	XP_016856341.1:p.Asn1440=
NM_201253.3:c.4185C= MANE Select	NP_957705.1:p.Asn1395=
NM_001193640.2:c.3849C=	NP_001180569.1:p.Asn1283=
NM_001257965.2:c.4113C=	NP_001244894.1:p.Asn1371=
NR_047563.2:n.4138C=
NR_047564.2:n.4588C=
NM_001257966.2:c.2577C=	NP_001244895.1:p.Asn859=