Canonical Allele Identifier: CA1218063052

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421229C= , CM000663.2:g.197421229C=	GRCh38
NC_000001.10:g.197390359C= , CM000663.1:g.197390359C=	GRCh37
NC_000001.9:g.195656982C=	NCBI36
NG_008483.1:g.157952C=
NG_008483.2:g.224768C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1401C= MANE Select	ENSP00000356370.3:p.Phe467=
ENST00000638467.1:c.1401C=	ENSP00000491102.1:p.Phe467=
ENST00000681519.1:c.282C=	ENSP00000505267.1:p.Phe94=
ENST00000367397.1:c.-457C=	ENSP00000356367.1:n.-457C=
ENST00000367399.6:c.1065C=	ENSP00000356369.2:p.Phe355=
ENST00000367400.7:c.1401C=	ENSP00000356370.3:p.Phe467=
ENST00000476483.1:n.361C=
ENST00000484075.5:c.1401C=	ENSP00000433932.1:p.Phe467=
ENST00000535699.5:c.1194C=	ENSP00000438786.1:p.Phe398=
ENST00000538660.5:c.1401C=	ENSP00000438091.1:p.Phe467=
NM_001193640.1:c.1065C=	NP_001180569.1:p.Phe355=
NM_001257965.1:c.1194C=	NP_001244894.1:p.Phe398=
NM_001257966.1:c.1401C=	NP_001244895.1:p.Phe467=
NM_201253.2:c.1401C=	NP_957705.1:p.Phe467=
NR_047563.1:n.1610C=
NR_047564.1:n.1610C=
XM_011509365.1:c.1401C=	XP_011507667.1:p.Phe467=
XM_011509366.1:c.1401C=	XP_011507668.1:p.Phe467=
XM_011509367.1:c.1401C=	XP_011507669.1:p.Phe467=
XM_011509368.1:c.819C=	XP_011507670.1:p.Phe273=
XM_011509369.1:c.-157C=	XP_011507671.1:n.-157C=
XM_011509365.2:c.1401C=	XP_011507667.1:p.Phe467=
XM_011509369.2:c.-157C=	XP_011507671.1:n.-157C=
XM_017000851.1:c.558C=	XP_016856340.1:p.Phe186=
XM_017000852.1:c.1401C=	XP_016856341.1:p.Phe467=
NM_201253.3:c.1401C= MANE Select	NP_957705.1:p.Phe467=
NM_001193640.2:c.1065C=	NP_001180569.1:p.Phe355=
NM_001257965.2:c.1194C=	NP_001244894.1:p.Phe398=
NR_047563.2:n.1562C=
NR_047564.2:n.1562C=
NM_001257966.2:c.1401C=	NP_001244895.1:p.Phe467=