Canonical Allele Identifier: CA1218066123

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427642G= , CM000663.2:g.197427642G=	GRCh38
NC_000001.10:g.197396772G= , CM000663.1:g.197396772G=	GRCh37
NC_000001.9:g.195663395G=	NCBI36
NG_008483.1:g.164365G=
NG_008483.2:g.231181G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2317G= MANE Select	ENSP00000356370.3:p.Ala773=
ENST00000638467.1:c.2317G=	ENSP00000491102.1:p.Ala773=
ENST00000681519.1:c.1198G=	ENSP00000505267.1:p.Ala400=
ENST00000367397.1:c.460G=	ENSP00000356367.1:p.Ala154=
ENST00000367399.6:c.1981G=	ENSP00000356369.2:p.Ala661=
ENST00000367400.7:c.2317G=	ENSP00000356370.3:p.Ala773=
ENST00000480086.2:n.218G=
ENST00000484075.5:c.2317G=	ENSP00000433932.1:p.Ala773=
ENST00000535699.5:c.2110G=	ENSP00000438786.1:p.Ala704=
ENST00000538660.5:c.2128+5686G=	ENSP00000438091.1:n.2128+5686G=
NM_001193640.1:c.1981G=	NP_001180569.1:p.Ala661=
NM_001257965.1:c.2110G=	NP_001244894.1:p.Ala704=
NM_001257966.1:c.2128+5686G=	NP_001244895.1:n.2128+5686G=
NM_201253.2:c.2317G=	NP_957705.1:p.Ala773=
NR_047563.1:n.2318G=
NR_047564.1:n.2526G=
XM_011509365.1:c.2317G=	XP_011507667.1:p.Ala773=
XM_011509366.1:c.2317G=	XP_011507668.1:p.Ala773=
XM_011509367.1:c.2317G=	XP_011507669.1:p.Ala773=
XM_011509368.1:c.1735G=	XP_011507670.1:p.Ala579=
XM_011509369.1:c.760G=	XP_011507671.1:p.Ala254=
XM_011509365.2:c.2317G=	XP_011507667.1:p.Ala773=
XM_011509369.2:c.760G=	XP_011507671.1:p.Ala254=
XM_017000851.1:c.1474G=	XP_016856340.1:p.Ala492=
XM_017000852.1:c.2317G=	XP_016856341.1:p.Ala773=
NM_201253.3:c.2317G= MANE Select	NP_957705.1:p.Ala773=
NM_001193640.2:c.1981G=	NP_001180569.1:p.Ala661=
NM_001257965.2:c.2110G=	NP_001244894.1:p.Ala704=
NR_047563.2:n.2270G=
NR_047564.2:n.2478G=
NM_001257966.2:c.2128+5686G=	NP_001244895.1:n.2128+5686G=