Canonical Allele Identifier: CA344041226

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429570G>A , CM000663.2:g.197429570G>A	GRCh38
NC_000001.10:g.197398700G>A , CM000663.1:g.197398700G>A	GRCh37
NC_000001.9:g.195665323G>A	NCBI36
NG_008483.1:g.166293G>A
NG_008483.2:g.233109G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2798G>A MANE Select	NP_957705.1:p.Cys933Tyr
ENST00000367400.8:c.2798G>A MANE Select	ENSP00000356370.3:p.Cys933Tyr
NM_001193640.1:c.2462G>A	NP_001180569.1:p.Cys821Tyr
NM_001193640.2:c.2462G>A	NP_001180569.1:p.Cys821Tyr
NM_001257965.1:c.2726G>A	NP_001244894.1:p.Cys909Tyr
NM_001257965.2:c.2726G>A	NP_001244894.1:p.Cys909Tyr
NM_001257966.1:c.2129-6030G>A	NP_001244895.1:n.2129-6030G>A
NM_001257966.2:c.2129-6030G>A	NP_001244895.1:n.2129-6030G>A
NM_201253.2:c.2798G>A	NP_957705.1:p.Cys933Tyr
NR_047563.1:n.2799G>A
NR_047563.2:n.2751G>A
NR_047564.1:n.3007G>A
NR_047564.2:n.2959G>A
ENST00000367397.1:c.941G>A	ENSP00000356367.1:p.Cys314Tyr
ENST00000367399.6:c.2462G>A	ENSP00000356369.2:p.Cys821Tyr
ENST00000367400.7:c.2798G>A	ENSP00000356370.3:p.Cys933Tyr
ENST00000484075.5:c.2798G>A	ENSP00000433932.1:p.Cys933Tyr
ENST00000535699.5:c.2726G>A	ENSP00000438786.1:p.Cys909Tyr
ENST00000538660.5:c.2129-6030G>A	ENSP00000438091.1:n.2129-6030G>A
ENST00000638467.1:c.2798G>A	ENSP00000491102.1:p.Cys933Tyr
ENST00000681519.1:c.1679G>A	ENSP00000505267.1:p.Cys560Tyr
XM_011509365.1:c.2798G>A	XP_011507667.1:p.Cys933Tyr
XM_011509365.2:c.2798G>A	XP_011507667.1:p.Cys933Tyr
XM_011509366.1:c.2798G>A	XP_011507668.1:p.Cys933Tyr
XM_011509367.1:c.2798G>A	XP_011507669.1:p.Cys933Tyr
XM_011509368.1:c.2216G>A	XP_011507670.1:p.Cys739Tyr
XM_011509369.1:c.1241G>A	XP_011507671.1:p.Cys414Tyr
XM_011509369.2:c.1241G>A	XP_011507671.1:p.Cys414Tyr
XM_017000851.1:c.1955G>A	XP_016856340.1:p.Cys652Tyr
XM_017000852.1:c.2933G>A	XP_016856341.1:p.Cys978Tyr