Canonical Allele Identifier: CA422677621

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1607132
• ClinVar RCV Id: RCV002152315
• dbSNP Id: rs1490587812
• gnomAD v2: 1-197446997-G-A
• gnomAD v4: 1-197477867-G-A
• MyVariant Identifiers: chr1:g.197446997G>A (hg19) ; chr1:g.197477867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477867G>A , CM000663.2:g.197477867G>A	GRCh38
NC_000001.10:g.197446997G>A , CM000663.1:g.197446997G>A	GRCh37
NC_000001.9:g.195713620G>A	NCBI36
NG_008483.1:g.214590G>A
NG_008483.2:g.281406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4209G>A MANE Select	ENSP00000356370.3:p.Glu1403=
ENST00000367399.6:c.3873G>A	ENSP00000356369.2:p.Glu1291=
ENST00000367400.7:c.4209G>A	ENSP00000356370.3:p.Glu1403=
ENST00000448952.1:c.443G>A	ENSP00000395407.1:n.443G>A
ENST00000484075.5:c.*320G>A	ENSP00000433932.1:n.*320G>A
ENST00000535699.5:c.4137G>A	ENSP00000438786.1:p.Glu1379=
ENST00000538660.5:c.2601G>A	ENSP00000438091.1:p.Glu867=
NM_001193640.1:c.3873G>A	NP_001180569.1:p.Glu1291=
NM_001257965.1:c.4137G>A	NP_001244894.1:p.Glu1379=
NM_001257966.1:c.2601G>A	NP_001244895.1:p.Glu867=
NM_201253.2:c.4209G>A	NP_957705.1:p.Glu1403=
NR_047563.1:n.4210G>A
NR_047564.1:n.4660G>A
XM_011509366.1:c.*314G>A	XP_011507668.1:n.*314G>A
XM_011509367.1:c.*188G>A	XP_011507669.1:n.*188G>A
XM_011509368.1:c.3627G>A	XP_011507670.1:p.Glu1209=
XM_011509369.1:c.2652G>A	XP_011507671.1:p.Glu884=
XM_011509369.2:c.2652G>A	XP_011507671.1:p.Glu884=
XM_017000851.1:c.3366G>A	XP_016856340.1:p.Glu1122=
XM_017000852.1:c.4344G>A	XP_016856341.1:p.Glu1448=
NM_201253.3:c.4209G>A MANE Select	NP_957705.1:p.Glu1403=
NM_001193640.2:c.3873G>A	NP_001180569.1:p.Glu1291=
NM_001257965.2:c.4137G>A	NP_001244894.1:p.Glu1379=
NR_047563.2:n.4162G>A
NR_047564.2:n.4612G>A
NM_001257966.2:c.2601G>A	NP_001244895.1:p.Glu867=