Canonical Allele Identifier: CA344051009

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197438659G>A , CM000663.2:g.197438659G>A	GRCh38
NC_000001.10:g.197407789G>A , CM000663.1:g.197407789G>A	GRCh37
NC_000001.9:g.195674412G>A	NCBI36
NG_008483.1:g.175382G>A
NG_008483.2:g.242198G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3862G>A MANE Select	NP_957705.1:p.Gly1288Ser
ENST00000367400.8:c.3862G>A MANE Select	ENSP00000356370.3:p.Gly1288Ser
NM_001193640.1:c.3526G>A	NP_001180569.1:p.Gly1176Ser
NM_001193640.2:c.3526G>A	NP_001180569.1:p.Gly1176Ser
NM_001257965.1:c.3790G>A	NP_001244894.1:p.Gly1264Ser
NM_001257965.2:c.3790G>A	NP_001244894.1:p.Gly1264Ser
NM_001257966.1:c.2254G>A	NP_001244895.1:p.Gly752Ser
NM_001257966.2:c.2254G>A	NP_001244895.1:p.Gly752Ser
NM_201253.2:c.3862G>A	NP_957705.1:p.Gly1288Ser
NR_047563.1:n.3863G>A
NR_047563.2:n.3815G>A
NR_047564.1:n.4071G>A
NR_047564.2:n.4023G>A
ENST00000367397.1:c.2005G>A	ENSP00000356367.1:p.Gly669Ser
ENST00000367399.6:c.3526G>A	ENSP00000356369.2:p.Gly1176Ser
ENST00000367400.7:c.3862G>A	ENSP00000356370.3:p.Gly1288Ser
ENST00000484075.5:c.3862G>A	ENSP00000433932.1:p.Gly1288Ser
ENST00000535699.5:c.3790G>A	ENSP00000438786.1:p.Gly1264Ser
ENST00000538660.5:c.2254G>A	ENSP00000438091.1:p.Gly752Ser
ENST00000638467.1:c.3862G>A	ENSP00000491102.1:p.Gly1288Ser
ENST00000681519.1:c.2743G>A	ENSP00000505267.1:p.Gly915Ser
XM_011509365.1:c.3862G>A	XP_011507667.1:p.Gly1288Ser
XM_011509365.2:c.3862G>A	XP_011507667.1:p.Gly1288Ser
XM_011509366.1:c.3862G>A	XP_011507668.1:p.Gly1288Ser
XM_011509367.1:c.3862G>A	XP_011507669.1:p.Gly1288Ser
XM_011509368.1:c.3280G>A	XP_011507670.1:p.Gly1094Ser
XM_011509369.1:c.2305G>A	XP_011507671.1:p.Gly769Ser
XM_011509369.2:c.2305G>A	XP_011507671.1:p.Gly769Ser
XM_017000851.1:c.3019G>A	XP_016856340.1:p.Gly1007Ser
XM_017000852.1:c.3997G>A	XP_016856341.1:p.Gly1333Ser