Canonical Allele Identifier: CA344047105

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435192T>G , CM000663.2:g.197435192T>G	GRCh38
NC_000001.10:g.197404322T>G , CM000663.1:g.197404322T>G	GRCh37
NC_000001.9:g.195670945T>G	NCBI36
NG_008483.1:g.171915T>G
NG_008483.2:g.238731T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3329T>G MANE Select	NP_957705.1:p.Phe1110Cys
ENST00000367400.8:c.3329T>G MANE Select	ENSP00000356370.3:p.Phe1110Cys
NM_001193640.1:c.2993T>G	NP_001180569.1:p.Phe998Cys
NM_001193640.2:c.2993T>G	NP_001180569.1:p.Phe998Cys
NM_001257965.1:c.3257T>G	NP_001244894.1:p.Phe1086Cys
NM_001257965.2:c.3257T>G	NP_001244894.1:p.Phe1086Cys
NM_001257966.1:c.2129-408T>G	NP_001244895.1:n.2129-408T>G
NM_001257966.2:c.2129-408T>G	NP_001244895.1:n.2129-408T>G
NM_201253.2:c.3329T>G	NP_957705.1:p.Phe1110Cys
NR_047563.1:n.3330T>G
NR_047563.2:n.3282T>G
NR_047564.1:n.3538T>G
NR_047564.2:n.3490T>G
ENST00000367397.1:c.1472T>G	ENSP00000356367.1:p.Phe491Cys
ENST00000367399.6:c.2993T>G	ENSP00000356369.2:p.Phe998Cys
ENST00000367400.7:c.3329T>G	ENSP00000356370.3:p.Phe1110Cys
ENST00000484075.5:c.3329T>G	ENSP00000433932.1:p.Phe1110Cys
ENST00000535699.5:c.3257T>G	ENSP00000438786.1:p.Phe1086Cys
ENST00000538660.5:c.2129-408T>G	ENSP00000438091.1:n.2129-408T>G
ENST00000638467.1:c.3329T>G	ENSP00000491102.1:p.Phe1110Cys
ENST00000681519.1:c.2210T>G	ENSP00000505267.1:p.Phe737Cys
XM_011509365.1:c.3329T>G	XP_011507667.1:p.Phe1110Cys
XM_011509365.2:c.3329T>G	XP_011507667.1:p.Phe1110Cys
XM_011509366.1:c.3329T>G	XP_011507668.1:p.Phe1110Cys
XM_011509367.1:c.3329T>G	XP_011507669.1:p.Phe1110Cys
XM_011509368.1:c.2747T>G	XP_011507670.1:p.Phe916Cys
XM_011509369.1:c.1772T>G	XP_011507671.1:p.Phe591Cys
XM_011509369.2:c.1772T>G	XP_011507671.1:p.Phe591Cys
XM_017000851.1:c.2486T>G	XP_016856340.1:p.Phe829Cys
XM_017000852.1:c.3464T>G	XP_016856341.1:p.Phe1155Cys