Canonical Allele Identifier: CA1312549

Gene: CRB1

Linked Data

• ClinVar Variation Id: 373569
• ClinVar RCV Id: RCV000414607 ; RCV001207041 ; RCV001828387
• dbSNP Id: rs760100325
• ExAC: 1:197446849 C / A
• gnomAD v2: 1-197446849-C-A
• gnomAD v3: 1-197477719-C-A
• gnomAD v4: 1-197477719-C-A
• MyVariant Identifiers: chr1:g.197446849C>A (hg19) ; chr1:g.197477719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477719C>A , CM000663.2:g.197477719C>A	GRCh38
NC_000001.10:g.197446849C>A , CM000663.1:g.197446849C>A	GRCh37
NC_000001.9:g.195713472C>A	NCBI36
NG_008483.1:g.214442C>A
NG_008483.2:g.281258C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4061C>A MANE Select	ENSP00000356370.3:p.Ala1354Asp
ENST00000367399.6:c.3725C>A	ENSP00000356369.2:p.Ala1242Asp
ENST00000367400.7:c.4061C>A	ENSP00000356370.3:p.Ala1354Asp
ENST00000448952.1:c.295C>A	ENSP00000395407.1:n.295C>A
ENST00000484075.5:c.*172C>A	ENSP00000433932.1:n.*172C>A
ENST00000535699.5:c.3989C>A	ENSP00000438786.1:p.Ala1330Asp
ENST00000538660.5:c.2453C>A	ENSP00000438091.1:p.Ala818Asp
NM_001193640.1:c.3725C>A	NP_001180569.1:p.Ala1242Asp
NM_001257965.1:c.3989C>A	NP_001244894.1:p.Ala1330Asp
NM_001257966.1:c.2453C>A	NP_001244895.1:p.Ala818Asp
NM_201253.2:c.4061C>A	NP_957705.1:p.Ala1354Asp
NR_047563.1:n.4062C>A
NR_047564.1:n.4512C>A
XM_011509366.1:c.*166C>A	XP_011507668.1:n.*166C>A
XM_011509367.1:c.*40C>A	XP_011507669.1:n.*40C>A
XM_011509368.1:c.3479C>A	XP_011507670.1:p.Ala1160Asp
XM_011509369.1:c.2504C>A	XP_011507671.1:p.Ala835Asp
XM_011509369.2:c.2504C>A	XP_011507671.1:p.Ala835Asp
XM_017000851.1:c.3218C>A	XP_016856340.1:p.Ala1073Asp
XM_017000852.1:c.4196C>A	XP_016856341.1:p.Ala1399Asp
NM_201253.3:c.4061C>A MANE Select	NP_957705.1:p.Ala1354Asp
NM_001193640.2:c.3725C>A	NP_001180569.1:p.Ala1242Asp
NM_001257965.2:c.3989C>A	NP_001244894.1:p.Ala1330Asp
NR_047563.2:n.4014C>A
NR_047564.2:n.4464C>A
NM_001257966.2:c.2453C>A	NP_001244895.1:p.Ala818Asp