Canonical Allele Identifier: CA1218087225

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477698C= , CM000663.2:g.197477698C=	GRCh38
NC_000001.10:g.197446828C= , CM000663.1:g.197446828C=	GRCh37
NC_000001.9:g.195713451C=	NCBI36
NG_008483.1:g.214421C=
NG_008483.2:g.281237C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4040C= MANE Select	ENSP00000356370.3:p.Thr1347=
ENST00000367399.6:c.3704C=	ENSP00000356369.2:p.Thr1235=
ENST00000367400.7:c.4040C=	ENSP00000356370.3:p.Thr1347=
ENST00000448952.1:c.274C=	ENSP00000395407.1:n.274C=
ENST00000484075.5:c.*151C=	ENSP00000433932.1:n.*151C=
ENST00000535699.5:c.3968C=	ENSP00000438786.1:p.Thr1323=
ENST00000538660.5:c.2432C=	ENSP00000438091.1:p.Thr811=
NM_001193640.1:c.3704C=	NP_001180569.1:p.Thr1235=
NM_001257965.1:c.3968C=	NP_001244894.1:p.Thr1323=
NM_001257966.1:c.2432C=	NP_001244895.1:p.Thr811=
NM_201253.2:c.4040C=	NP_957705.1:p.Thr1347=
NR_047563.1:n.4041C=
NR_047564.1:n.4491C=
XM_011509366.1:c.*145C=	XP_011507668.1:n.*145C=
XM_011509367.1:c.*19C=	XP_011507669.1:n.*19C=
XM_011509368.1:c.3458C=	XP_011507670.1:p.Thr1153=
XM_011509369.1:c.2483C=	XP_011507671.1:p.Thr828=
XM_011509369.2:c.2483C=	XP_011507671.1:p.Thr828=
XM_017000851.1:c.3197C=	XP_016856340.1:p.Thr1066=
XM_017000852.1:c.4175C=	XP_016856341.1:p.Thr1392=
NM_201253.3:c.4040C= MANE Select	NP_957705.1:p.Thr1347=
NM_001193640.2:c.3704C=	NP_001180569.1:p.Thr1235=
NM_001257965.2:c.3968C=	NP_001244894.1:p.Thr1323=
NR_047563.2:n.3993C=
NR_047564.2:n.4443C=
NM_001257966.2:c.2432C=	NP_001244895.1:p.Thr811=