Canonical Allele Identifier: CA1218063202

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421607G= , CM000663.2:g.197421607G=	GRCh38
NC_000001.10:g.197390737G= , CM000663.1:g.197390737G=	GRCh37
NC_000001.9:g.195657360G=	NCBI36
NG_008483.1:g.158330G=
NG_008483.2:g.225146G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1779G= MANE Select	ENSP00000356370.3:p.Ala593=
ENST00000638467.1:c.1779G=	ENSP00000491102.1:p.Ala593=
ENST00000681519.1:c.660G=	ENSP00000505267.1:p.Ala220=
ENST00000367397.1:c.-79G=	ENSP00000356367.1:n.-79G=
ENST00000367399.6:c.1443G=	ENSP00000356369.2:p.Ala481=
ENST00000367400.7:c.1779G=	ENSP00000356370.3:p.Ala593=
ENST00000484075.5:c.1779G=	ENSP00000433932.1:p.Ala593=
ENST00000535699.5:c.1572G=	ENSP00000438786.1:p.Ala524=
ENST00000538660.5:c.1779G=	ENSP00000438091.1:p.Ala593=
NM_001193640.1:c.1443G=	NP_001180569.1:p.Ala481=
NM_001257965.1:c.1572G=	NP_001244894.1:p.Ala524=
NM_001257966.1:c.1779G=	NP_001244895.1:p.Ala593=
NM_201253.2:c.1779G=	NP_957705.1:p.Ala593=
NR_047563.1:n.1922+66G=
NR_047564.1:n.1988G=
XM_011509365.1:c.1779G=	XP_011507667.1:p.Ala593=
XM_011509366.1:c.1779G=	XP_011507668.1:p.Ala593=
XM_011509367.1:c.1779G=	XP_011507669.1:p.Ala593=
XM_011509368.1:c.1197G=	XP_011507670.1:p.Ala399=
XM_011509369.1:c.222G=	XP_011507671.1:p.Ala74=
XM_011509365.2:c.1779G=	XP_011507667.1:p.Ala593=
XM_011509369.2:c.222G=	XP_011507671.1:p.Ala74=
XM_017000851.1:c.936G=	XP_016856340.1:p.Ala312=
XM_017000852.1:c.1779G=	XP_016856341.1:p.Ala593=
NM_201253.3:c.1779G= MANE Select	NP_957705.1:p.Ala593=
NM_001193640.2:c.1443G=	NP_001180569.1:p.Ala481=
NM_001257965.2:c.1572G=	NP_001244894.1:p.Ala524=
NR_047563.2:n.1874+66G=
NR_047564.2:n.1940G=
NM_001257966.2:c.1779G=	NP_001244895.1:p.Ala593=