Canonical Allele Identifier: CA1218068699

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434863T= , CM000663.2:g.197434863T=	GRCh38
NC_000001.10:g.197403993T= , CM000663.1:g.197403993T=	GRCh37
NC_000001.9:g.195670616T=	NCBI36
NG_008483.1:g.171586T=
NG_008483.2:g.238402T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3000T= MANE Select	ENSP00000356370.3:p.Asn1000=
ENST00000638467.1:c.3000T=	ENSP00000491102.1:p.Asn1000=
ENST00000681519.1:c.1881T=	ENSP00000505267.1:p.Asn627=
ENST00000367397.1:c.1143T=	ENSP00000356367.1:p.Asn381=
ENST00000367399.6:c.2664T=	ENSP00000356369.2:p.Asn888=
ENST00000367400.7:c.3000T=	ENSP00000356370.3:p.Asn1000=
ENST00000484075.5:c.3000T=	ENSP00000433932.1:p.Asn1000=
ENST00000535699.5:c.2928T=	ENSP00000438786.1:p.Asn976=
ENST00000538660.5:c.2129-737T=	ENSP00000438091.1:n.2129-737T=
NM_001193640.1:c.2664T=	NP_001180569.1:p.Asn888=
NM_001257965.1:c.2928T=	NP_001244894.1:p.Asn976=
NM_001257966.1:c.2129-737T=	NP_001244895.1:n.2129-737T=
NM_201253.2:c.3000T=	NP_957705.1:p.Asn1000=
NR_047563.1:n.3001T=
NR_047564.1:n.3209T=
XM_011509365.1:c.3000T=	XP_011507667.1:p.Asn1000=
XM_011509366.1:c.3000T=	XP_011507668.1:p.Asn1000=
XM_011509367.1:c.3000T=	XP_011507669.1:p.Asn1000=
XM_011509368.1:c.2418T=	XP_011507670.1:p.Asn806=
XM_011509369.1:c.1443T=	XP_011507671.1:p.Asn481=
XM_011509365.2:c.3000T=	XP_011507667.1:p.Asn1000=
XM_011509369.2:c.1443T=	XP_011507671.1:p.Asn481=
XM_017000851.1:c.2157T=	XP_016856340.1:p.Asn719=
XM_017000852.1:c.3135T=	XP_016856341.1:p.Asn1045=
NM_201253.3:c.3000T= MANE Select	NP_957705.1:p.Asn1000=
NM_001193640.2:c.2664T=	NP_001180569.1:p.Asn888=
NM_001257965.2:c.2928T=	NP_001244894.1:p.Asn976=
NR_047563.2:n.2953T=
NR_047564.2:n.3161T=
NM_001257966.2:c.2129-737T=	NP_001244895.1:n.2129-737T=