Canonical Allele Identifier: CA1218087282

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477839G= , CM000663.2:g.197477839G=	GRCh38
NC_000001.10:g.197446969G= , CM000663.1:g.197446969G=	GRCh37
NC_000001.9:g.195713592G=	NCBI36
NG_008483.1:g.214562G=
NG_008483.2:g.281378G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4181G= MANE Select	ENSP00000356370.3:p.Trp1394=
ENST00000367399.6:c.3845G=	ENSP00000356369.2:p.Trp1282=
ENST00000367400.7:c.4181G=	ENSP00000356370.3:p.Trp1394=
ENST00000448952.1:c.415G=	ENSP00000395407.1:n.415G=
ENST00000484075.5:c.*292G=	ENSP00000433932.1:n.*292G=
ENST00000535699.5:c.4109G=	ENSP00000438786.1:p.Trp1370=
ENST00000538660.5:c.2573G=	ENSP00000438091.1:p.Trp858=
NM_001193640.1:c.3845G=	NP_001180569.1:p.Trp1282=
NM_001257965.1:c.4109G=	NP_001244894.1:p.Trp1370=
NM_001257966.1:c.2573G=	NP_001244895.1:p.Trp858=
NM_201253.2:c.4181G=	NP_957705.1:p.Trp1394=
NR_047563.1:n.4182G=
NR_047564.1:n.4632G=
XM_011509366.1:c.*286G=	XP_011507668.1:n.*286G=
XM_011509367.1:c.*160G=	XP_011507669.1:n.*160G=
XM_011509368.1:c.3599G=	XP_011507670.1:p.Trp1200=
XM_011509369.1:c.2624G=	XP_011507671.1:p.Trp875=
XM_011509369.2:c.2624G=	XP_011507671.1:p.Trp875=
XM_017000851.1:c.3338G=	XP_016856340.1:p.Trp1113=
XM_017000852.1:c.4316G=	XP_016856341.1:p.Trp1439=
NM_201253.3:c.4181G= MANE Select	NP_957705.1:p.Trp1394=
NM_001193640.2:c.3845G=	NP_001180569.1:p.Trp1282=
NM_001257965.2:c.4109G=	NP_001244894.1:p.Trp1370=
NR_047563.2:n.4134G=
NR_047564.2:n.4584G=
NM_001257966.2:c.2573G=	NP_001244895.1:p.Trp858=