Canonical Allele Identifier: CA1312417

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197438660G>A , CM000663.2:g.197438660G>A	GRCh38
NC_000001.10:g.197407790G>A , CM000663.1:g.197407790G>A	GRCh37
NC_000001.9:g.195674413G>A	NCBI36
NG_008483.1:g.175383G>A
NG_008483.2:g.242199G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3863G>A MANE Select	NP_957705.1:p.Gly1288Asp
ENST00000367400.8:c.3863G>A MANE Select	ENSP00000356370.3:p.Gly1288Asp
NM_001193640.1:c.3527G>A	NP_001180569.1:p.Gly1176Asp
NM_001193640.2:c.3527G>A	NP_001180569.1:p.Gly1176Asp
NM_001257965.1:c.3791G>A	NP_001244894.1:p.Gly1264Asp
NM_001257965.2:c.3791G>A	NP_001244894.1:p.Gly1264Asp
NM_001257966.1:c.2255G>A	NP_001244895.1:p.Gly752Asp
NM_001257966.2:c.2255G>A	NP_001244895.1:p.Gly752Asp
NM_201253.2:c.3863G>A	NP_957705.1:p.Gly1288Asp
NR_047563.1:n.3864G>A
NR_047563.2:n.3816G>A
NR_047564.1:n.4072G>A
NR_047564.2:n.4024G>A
ENST00000367397.1:c.2006G>A	ENSP00000356367.1:p.Gly669Asp
ENST00000367399.6:c.3527G>A	ENSP00000356369.2:p.Gly1176Asp
ENST00000367400.7:c.3863G>A	ENSP00000356370.3:p.Gly1288Asp
ENST00000484075.5:c.3863G>A	ENSP00000433932.1:p.Gly1288Asp
ENST00000535699.5:c.3791G>A	ENSP00000438786.1:p.Gly1264Asp
ENST00000538660.5:c.2255G>A	ENSP00000438091.1:p.Gly752Asp
ENST00000638467.1:c.3863G>A	ENSP00000491102.1:p.Gly1288Asp
ENST00000681519.1:c.2744G>A	ENSP00000505267.1:p.Gly915Asp
XM_011509365.1:c.3863G>A	XP_011507667.1:p.Gly1288Asp
XM_011509365.2:c.3863G>A	XP_011507667.1:p.Gly1288Asp
XM_011509366.1:c.3863G>A	XP_011507668.1:p.Gly1288Asp
XM_011509367.1:c.3863G>A	XP_011507669.1:p.Gly1288Asp
XM_011509368.1:c.3281G>A	XP_011507670.1:p.Gly1094Asp
XM_011509369.1:c.2306G>A	XP_011507671.1:p.Gly769Asp
XM_011509369.2:c.2306G>A	XP_011507671.1:p.Gly769Asp
XM_017000851.1:c.3020G>A	XP_016856340.1:p.Gly1007Asp
XM_017000852.1:c.3998G>A	XP_016856341.1:p.Gly1333Asp