Canonical Allele Identifier: CA422677618

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446991A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477861A>C , CM000663.2:g.197477861A>C	GRCh38
NC_000001.10:g.197446991A>C , CM000663.1:g.197446991A>C	GRCh37
NC_000001.9:g.195713614A>C	NCBI36
NG_008483.1:g.214584A>C
NG_008483.2:g.281400A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4203A>C MANE Select	ENSP00000356370.3:p.Ala1401=
ENST00000367399.6:c.3867A>C	ENSP00000356369.2:p.Ala1289=
ENST00000367400.7:c.4203A>C	ENSP00000356370.3:p.Ala1401=
ENST00000448952.1:c.437A>C	ENSP00000395407.1:n.437A>C
ENST00000484075.5:c.*314A>C	ENSP00000433932.1:n.*314A>C
ENST00000535699.5:c.4131A>C	ENSP00000438786.1:p.Ala1377=
ENST00000538660.5:c.2595A>C	ENSP00000438091.1:p.Ala865=
NM_001193640.1:c.3867A>C	NP_001180569.1:p.Ala1289=
NM_001257965.1:c.4131A>C	NP_001244894.1:p.Ala1377=
NM_001257966.1:c.2595A>C	NP_001244895.1:p.Ala865=
NM_201253.2:c.4203A>C	NP_957705.1:p.Ala1401=
NR_047563.1:n.4204A>C
NR_047564.1:n.4654A>C
XM_011509366.1:c.*308A>C	XP_011507668.1:n.*308A>C
XM_011509367.1:c.*182A>C	XP_011507669.1:n.*182A>C
XM_011509368.1:c.3621A>C	XP_011507670.1:p.Ala1207=
XM_011509369.1:c.2646A>C	XP_011507671.1:p.Ala882=
XM_011509369.2:c.2646A>C	XP_011507671.1:p.Ala882=
XM_017000851.1:c.3360A>C	XP_016856340.1:p.Ala1120=
XM_017000852.1:c.4338A>C	XP_016856341.1:p.Ala1446=
NM_201253.3:c.4203A>C MANE Select	NP_957705.1:p.Ala1401=
NM_001193640.2:c.3867A>C	NP_001180569.1:p.Ala1289=
NM_001257965.2:c.4131A>C	NP_001244894.1:p.Ala1377=
NR_047563.2:n.4156A>C
NR_047564.2:n.4606A>C
NM_001257966.2:c.2595A>C	NP_001244895.1:p.Ala865=