Canonical Allele Identifier: CA1218063199

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421604C= , CM000663.2:g.197421604C=	GRCh38
NC_000001.10:g.197390734C= , CM000663.1:g.197390734C=	GRCh37
NC_000001.9:g.195657357C=	NCBI36
NG_008483.1:g.158327C=
NG_008483.2:g.225143C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1776C= MANE Select	ENSP00000356370.3:p.Ile592=
ENST00000638467.1:c.1776C=	ENSP00000491102.1:p.Ile592=
ENST00000681519.1:c.657C=	ENSP00000505267.1:p.Ile219=
ENST00000367397.1:c.-82C=	ENSP00000356367.1:n.-82C=
ENST00000367399.6:c.1440C=	ENSP00000356369.2:p.Ile480=
ENST00000367400.7:c.1776C=	ENSP00000356370.3:p.Ile592=
ENST00000484075.5:c.1776C=	ENSP00000433932.1:p.Ile592=
ENST00000535699.5:c.1569C=	ENSP00000438786.1:p.Ile523=
ENST00000538660.5:c.1776C=	ENSP00000438091.1:p.Ile592=
NM_001193640.1:c.1440C=	NP_001180569.1:p.Ile480=
NM_001257965.1:c.1569C=	NP_001244894.1:p.Ile523=
NM_001257966.1:c.1776C=	NP_001244895.1:p.Ile592=
NM_201253.2:c.1776C=	NP_957705.1:p.Ile592=
NR_047563.1:n.1922+63C=
NR_047564.1:n.1985C=
XM_011509365.1:c.1776C=	XP_011507667.1:p.Ile592=
XM_011509366.1:c.1776C=	XP_011507668.1:p.Ile592=
XM_011509367.1:c.1776C=	XP_011507669.1:p.Ile592=
XM_011509368.1:c.1194C=	XP_011507670.1:p.Ile398=
XM_011509369.1:c.219C=	XP_011507671.1:p.Ile73=
XM_011509365.2:c.1776C=	XP_011507667.1:p.Ile592=
XM_011509369.2:c.219C=	XP_011507671.1:p.Ile73=
XM_017000851.1:c.933C=	XP_016856340.1:p.Ile311=
XM_017000852.1:c.1776C=	XP_016856341.1:p.Ile592=
NM_201253.3:c.1776C= MANE Select	NP_957705.1:p.Ile592=
NM_001193640.2:c.1440C=	NP_001180569.1:p.Ile480=
NM_001257965.2:c.1569C=	NP_001244894.1:p.Ile523=
NR_047563.2:n.1874+63C=
NR_047564.2:n.1937C=
NM_001257966.2:c.1776C=	NP_001244895.1:p.Ile592=