Canonical Allele Identifier: CA344050986

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197438650T>C , CM000663.2:g.197438650T>C	GRCh38
NC_000001.10:g.197407780T>C , CM000663.1:g.197407780T>C	GRCh37
NC_000001.9:g.195674403T>C	NCBI36
NG_008483.1:g.175373T>C
NG_008483.2:g.242189T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3853T>C MANE Select	NP_957705.1:p.Cys1285Arg
ENST00000367400.8:c.3853T>C MANE Select	ENSP00000356370.3:p.Cys1285Arg
NM_001193640.1:c.3517T>C	NP_001180569.1:p.Cys1173Arg
NM_001193640.2:c.3517T>C	NP_001180569.1:p.Cys1173Arg
NM_001257965.1:c.3781T>C	NP_001244894.1:p.Cys1261Arg
NM_001257965.2:c.3781T>C	NP_001244894.1:p.Cys1261Arg
NM_001257966.1:c.2245T>C	NP_001244895.1:p.Cys749Arg
NM_001257966.2:c.2245T>C	NP_001244895.1:p.Cys749Arg
NM_201253.2:c.3853T>C	NP_957705.1:p.Cys1285Arg
NR_047563.1:n.3854T>C
NR_047563.2:n.3806T>C
NR_047564.1:n.4062T>C
NR_047564.2:n.4014T>C
ENST00000367397.1:c.1996T>C	ENSP00000356367.1:p.Cys666Arg
ENST00000367399.6:c.3517T>C	ENSP00000356369.2:p.Cys1173Arg
ENST00000367400.7:c.3853T>C	ENSP00000356370.3:p.Cys1285Arg
ENST00000484075.5:c.3853T>C	ENSP00000433932.1:p.Cys1285Arg
ENST00000535699.5:c.3781T>C	ENSP00000438786.1:p.Cys1261Arg
ENST00000538660.5:c.2245T>C	ENSP00000438091.1:p.Cys749Arg
ENST00000638467.1:c.3853T>C	ENSP00000491102.1:p.Cys1285Arg
ENST00000681519.1:c.2734T>C	ENSP00000505267.1:p.Cys912Arg
XM_011509365.1:c.3853T>C	XP_011507667.1:p.Cys1285Arg
XM_011509365.2:c.3853T>C	XP_011507667.1:p.Cys1285Arg
XM_011509366.1:c.3853T>C	XP_011507668.1:p.Cys1285Arg
XM_011509367.1:c.3853T>C	XP_011507669.1:p.Cys1285Arg
XM_011509368.1:c.3271T>C	XP_011507670.1:p.Cys1091Arg
XM_011509369.1:c.2296T>C	XP_011507671.1:p.Cys766Arg
XM_011509369.2:c.2296T>C	XP_011507671.1:p.Cys766Arg
XM_017000851.1:c.3010T>C	XP_016856340.1:p.Cys1004Arg
XM_017000852.1:c.3988T>C	XP_016856341.1:p.Cys1330Arg