Canonical Allele Identifier: CA1218068794

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435098G= , CM000663.2:g.197435098G=	GRCh38
NC_000001.10:g.197404228G= , CM000663.1:g.197404228G=	GRCh37
NC_000001.9:g.195670851G=	NCBI36
NG_008483.1:g.171821G=
NG_008483.2:g.238637G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3235G= MANE Select	ENSP00000356370.3:p.Asp1079=
ENST00000638467.1:c.3235G=	ENSP00000491102.1:p.Asp1079=
ENST00000681519.1:c.2116G=	ENSP00000505267.1:p.Asp706=
ENST00000367397.1:c.1378G=	ENSP00000356367.1:p.Asp460=
ENST00000367399.6:c.2899G=	ENSP00000356369.2:p.Asp967=
ENST00000367400.7:c.3235G=	ENSP00000356370.3:p.Asp1079=
ENST00000484075.5:c.3235G=	ENSP00000433932.1:p.Asp1079=
ENST00000535699.5:c.3163G=	ENSP00000438786.1:p.Asp1055=
ENST00000538660.5:c.2129-502G=	ENSP00000438091.1:n.2129-502G=
NM_001193640.1:c.2899G=	NP_001180569.1:p.Asp967=
NM_001257965.1:c.3163G=	NP_001244894.1:p.Asp1055=
NM_001257966.1:c.2129-502G=	NP_001244895.1:n.2129-502G=
NM_201253.2:c.3235G=	NP_957705.1:p.Asp1079=
NR_047563.1:n.3236G=
NR_047564.1:n.3444G=
XM_011509365.1:c.3235G=	XP_011507667.1:p.Asp1079=
XM_011509366.1:c.3235G=	XP_011507668.1:p.Asp1079=
XM_011509367.1:c.3235G=	XP_011507669.1:p.Asp1079=
XM_011509368.1:c.2653G=	XP_011507670.1:p.Asp885=
XM_011509369.1:c.1678G=	XP_011507671.1:p.Asp560=
XM_011509365.2:c.3235G=	XP_011507667.1:p.Asp1079=
XM_011509369.2:c.1678G=	XP_011507671.1:p.Asp560=
XM_017000851.1:c.2392G=	XP_016856340.1:p.Asp798=
XM_017000852.1:c.3370G=	XP_016856341.1:p.Asp1124=
NM_201253.3:c.3235G= MANE Select	NP_957705.1:p.Asp1079=
NM_001193640.2:c.2899G=	NP_001180569.1:p.Asp967=
NM_001257965.2:c.3163G=	NP_001244894.1:p.Asp1055=
NR_047563.2:n.3188G=
NR_047564.2:n.3396G=
NM_001257966.2:c.2129-502G=	NP_001244895.1:n.2129-502G=