Canonical Allele Identifier: CA344047937

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435305T>C , CM000663.2:g.197435305T>C	GRCh38
NC_000001.10:g.197404435T>C , CM000663.1:g.197404435T>C	GRCh37
NC_000001.9:g.195671058T>C	NCBI36
NG_008483.1:g.172028T>C
NG_008483.2:g.238844T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3442T>C MANE Select	NP_957705.1:p.Cys1148Arg
ENST00000367400.8:c.3442T>C MANE Select	ENSP00000356370.3:p.Cys1148Arg
NM_001193640.1:c.3106T>C	NP_001180569.1:p.Cys1036Arg
NM_001193640.2:c.3106T>C	NP_001180569.1:p.Cys1036Arg
NM_001257965.1:c.3370T>C	NP_001244894.1:p.Cys1124Arg
NM_001257965.2:c.3370T>C	NP_001244894.1:p.Cys1124Arg
NM_001257966.1:c.2129-295T>C	NP_001244895.1:n.2129-295T>C
NM_001257966.2:c.2129-295T>C	NP_001244895.1:n.2129-295T>C
NM_201253.2:c.3442T>C	NP_957705.1:p.Cys1148Arg
NR_047563.1:n.3443T>C
NR_047563.2:n.3395T>C
NR_047564.1:n.3651T>C
NR_047564.2:n.3603T>C
ENST00000367397.1:c.1585T>C	ENSP00000356367.1:p.Cys529Arg
ENST00000367399.6:c.3106T>C	ENSP00000356369.2:p.Cys1036Arg
ENST00000367400.7:c.3442T>C	ENSP00000356370.3:p.Cys1148Arg
ENST00000484075.5:c.3442T>C	ENSP00000433932.1:p.Cys1148Arg
ENST00000535699.5:c.3370T>C	ENSP00000438786.1:p.Cys1124Arg
ENST00000538660.5:c.2129-295T>C	ENSP00000438091.1:n.2129-295T>C
ENST00000638467.1:c.3442T>C	ENSP00000491102.1:p.Cys1148Arg
ENST00000681519.1:c.2323T>C	ENSP00000505267.1:p.Cys775Arg
XM_011509365.1:c.3442T>C	XP_011507667.1:p.Cys1148Arg
XM_011509365.2:c.3442T>C	XP_011507667.1:p.Cys1148Arg
XM_011509366.1:c.3442T>C	XP_011507668.1:p.Cys1148Arg
XM_011509367.1:c.3442T>C	XP_011507669.1:p.Cys1148Arg
XM_011509368.1:c.2860T>C	XP_011507670.1:p.Cys954Arg
XM_011509369.1:c.1885T>C	XP_011507671.1:p.Cys629Arg
XM_011509369.2:c.1885T>C	XP_011507671.1:p.Cys629Arg
XM_017000851.1:c.2599T>C	XP_016856340.1:p.Cys867Arg
XM_017000852.1:c.3577T>C	XP_016856341.1:p.Cys1193Arg