Canonical Allele Identifier: CA1218087339

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477993C= , CM000663.2:g.197477993C=	GRCh38
NC_000001.10:g.197447123C= , CM000663.1:g.197447123C=	GRCh37
NC_000001.9:g.195713746C=	NCBI36
NG_008483.1:g.214716C=
NG_008483.2:g.281532C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*114C= MANE Select	ENSP00000356370.3:n.*114C=
ENST00000367400.7:c.*114C=	ENSP00000356370.3:n.*114C=
ENST00000448952.1:c.569C=	ENSP00000395407.1:n.569C=
ENST00000484075.5:c.*446C=	ENSP00000433932.1:n.*446C=
ENST00000535699.5:c.*114C=	ENSP00000438786.1:n.*114C=
ENST00000538660.5:c.*114C=	ENSP00000438091.1:n.*114C=
NM_001193640.1:c.*114C=	NP_001180569.1:n.*114C=
NM_001257965.1:c.*114C=	NP_001244894.1:n.*114C=
NM_001257966.1:c.*114C=	NP_001244895.1:n.*114C=
NM_201253.2:c.*114C=	NP_957705.1:n.*114C=
NR_047563.1:n.4336C=
NR_047564.1:n.4786C=
XM_011509366.1:c.*440C=	XP_011507668.1:n.*440C=
XM_011509367.1:c.*314C=	XP_011507669.1:n.*314C=
XM_011509368.1:c.*114C=	XP_011507670.1:n.*114C=
XM_011509369.1:c.*114C=	XP_011507671.1:n.*114C=
XM_011509369.2:c.*114C=	XP_011507671.1:n.*114C=
XM_017000851.1:c.*114C=	XP_016856340.1:n.*114C=
XM_017000852.1:c.*114C=	XP_016856341.1:n.*114C=
NM_201253.3:c.*114C= MANE Select	NP_957705.1:n.*114C=
NM_001193640.2:c.*114C=	NP_001180569.1:n.*114C=
NM_001257965.2:c.*114C=	NP_001244894.1:n.*114C=
NR_047563.2:n.4288C=
NR_047564.2:n.4738C=
NM_001257966.2:c.*114C=	NP_001244895.1:n.*114C=