Canonical Allele Identifier: CA344037794

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427822G>T , CM000663.2:g.197427822G>T	GRCh38
NC_000001.10:g.197396952G>T , CM000663.1:g.197396952G>T	GRCh37
NC_000001.9:g.195663575G>T	NCBI36
NG_008483.1:g.164545G>T
NG_008483.2:g.231361G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2497G>T MANE Select	NP_957705.1:p.Gly833Cys
ENST00000367400.8:c.2497G>T MANE Select	ENSP00000356370.3:p.Gly833Cys
NM_001193640.1:c.2161G>T	NP_001180569.1:p.Gly721Cys
NM_001193640.2:c.2161G>T	NP_001180569.1:p.Gly721Cys
NM_001257965.1:c.2290G>T	NP_001244894.1:p.Gly764Cys
NM_001257965.2:c.2290G>T	NP_001244894.1:p.Gly764Cys
NM_001257966.1:c.2128+5866G>T	NP_001244895.1:n.2128+5866G>T
NM_001257966.2:c.2128+5866G>T	NP_001244895.1:n.2128+5866G>T
NM_201253.2:c.2497G>T	NP_957705.1:p.Gly833Cys
NR_047563.1:n.2498G>T
NR_047563.2:n.2450G>T
NR_047564.1:n.2706G>T
NR_047564.2:n.2658G>T
ENST00000367397.1:c.640G>T	ENSP00000356367.1:p.Gly214Cys
ENST00000367399.6:c.2161G>T	ENSP00000356369.2:p.Gly721Cys
ENST00000367400.7:c.2497G>T	ENSP00000356370.3:p.Gly833Cys
ENST00000480086.2:n.398G>T
ENST00000484075.5:c.2497G>T	ENSP00000433932.1:p.Gly833Cys
ENST00000535699.5:c.2290G>T	ENSP00000438786.1:p.Gly764Cys
ENST00000538660.5:c.2128+5866G>T	ENSP00000438091.1:n.2128+5866G>T
ENST00000638467.1:c.2497G>T	ENSP00000491102.1:p.Gly833Cys
ENST00000681519.1:c.1378G>T	ENSP00000505267.1:p.Gly460Cys
XM_011509365.1:c.2497G>T	XP_011507667.1:p.Gly833Cys
XM_011509365.2:c.2497G>T	XP_011507667.1:p.Gly833Cys
XM_011509366.1:c.2497G>T	XP_011507668.1:p.Gly833Cys
XM_011509367.1:c.2497G>T	XP_011507669.1:p.Gly833Cys
XM_011509368.1:c.1915G>T	XP_011507670.1:p.Gly639Cys
XM_011509369.1:c.940G>T	XP_011507671.1:p.Gly314Cys
XM_011509369.2:c.940G>T	XP_011507671.1:p.Gly314Cys
XM_017000851.1:c.1654G>T	XP_016856340.1:p.Gly552Cys
XM_017000852.1:c.2497G>T	XP_016856341.1:p.Gly833Cys