Canonical Allele Identifier: CA344085303

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328573C>A , CM000663.2:g.197328573C>A	GRCh38
NC_000001.10:g.197297703C>A , CM000663.1:g.197297703C>A	GRCh37
NC_000001.9:g.195564326C>A	NCBI36
NG_008483.1:g.65296C>A
NG_008483.2:g.132112C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.222C>A MANE Select	NP_957705.1:p.Cys74Ter
ENST00000367400.8:c.222C>A MANE Select	ENSP00000356370.3:p.Cys74Ter
NM_001193640.1:c.222C>A	NP_001180569.1:p.Cys74Ter
NM_001193640.2:c.222C>A	NP_001180569.1:p.Cys74Ter
NM_001257965.1:c.15C>A	NP_001244894.1:p.Cys5Ter
NM_001257965.2:c.15C>A	NP_001244894.1:p.Cys5Ter
NM_001257966.1:c.222C>A	NP_001244895.1:p.Cys74Ter
NM_001257966.2:c.222C>A	NP_001244895.1:p.Cys74Ter
NM_201253.2:c.222C>A	NP_957705.1:p.Cys74Ter
NR_047563.1:n.431C>A
NR_047563.2:n.383C>A
NR_047564.1:n.431C>A
NR_047564.2:n.383C>A
ENST00000367399.6:c.222C>A	ENSP00000356369.2:p.Cys74Ter
ENST00000367400.7:c.222C>A	ENSP00000356370.3:p.Cys74Ter
ENST00000475659.1:n.359C>A
ENST00000484075.5:c.222C>A	ENSP00000433932.1:p.Cys74Ter
ENST00000535699.5:c.15C>A	ENSP00000438786.1:p.Cys5Ter
ENST00000538660.5:c.222C>A	ENSP00000438091.1:p.Cys74Ter
ENST00000638467.1:c.222C>A	ENSP00000491102.1:p.Cys74Ter
XM_011509365.1:c.222C>A	XP_011507667.1:p.Cys74Ter
XM_011509365.2:c.222C>A	XP_011507667.1:p.Cys74Ter
XM_011509366.1:c.222C>A	XP_011507668.1:p.Cys74Ter
XM_011509367.1:c.222C>A	XP_011507669.1:p.Cys74Ter
XM_011509368.1:c.71-15708C>A	XP_011507670.1:n.71-15708C>A
XM_017000851.1:c.-482C>A	XP_016856340.1:n.-482C>A
XM_017000852.1:c.222C>A	XP_016856341.1:p.Cys74Ter