Canonical Allele Identifier: CA1312145

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2074958
• ClinVar RCV Id: RCV002963173
• dbSNP Id: rs750042314
• ExAC: 1:197397067 A / G
• gnomAD v2: 1-197397067-A-G
• gnomAD v3: 1-197427937-A-G
• gnomAD v4: 1-197427937-A-G
• MyVariant Identifiers: chr1:g.197397067A>G (hg19) ; chr1:g.197427937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427937A>G , CM000663.2:g.197427937A>G	GRCh38
NC_000001.10:g.197397067A>G , CM000663.1:g.197397067A>G	GRCh37
NC_000001.9:g.195663690A>G	NCBI36
NG_008483.1:g.164660A>G
NG_008483.2:g.231476A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2612A>G MANE Select	ENSP00000356370.3:p.Asn871Ser
ENST00000638467.1:c.2612A>G	ENSP00000491102.1:p.Asn871Ser
ENST00000681519.1:c.1493A>G	ENSP00000505267.1:p.Asn498Ser
ENST00000367397.1:c.755A>G	ENSP00000356367.1:p.Asn252Ser
ENST00000367399.6:c.2276A>G	ENSP00000356369.2:p.Asn759Ser
ENST00000367400.7:c.2612A>G	ENSP00000356370.3:p.Asn871Ser
ENST00000484075.5:c.2612A>G	ENSP00000433932.1:p.Asn871Ser
ENST00000535699.5:c.2405A>G	ENSP00000438786.1:p.Asn802Ser
ENST00000538660.5:c.2128+5981A>G	ENSP00000438091.1:n.2128+5981A>G
NM_001193640.1:c.2276A>G	NP_001180569.1:p.Asn759Ser
NM_001257965.1:c.2405A>G	NP_001244894.1:p.Asn802Ser
NM_001257966.1:c.2128+5981A>G	NP_001244895.1:n.2128+5981A>G
NM_201253.2:c.2612A>G	NP_957705.1:p.Asn871Ser
NR_047563.1:n.2613A>G
NR_047564.1:n.2821A>G
XM_011509365.1:c.2612A>G	XP_011507667.1:p.Asn871Ser
XM_011509366.1:c.2612A>G	XP_011507668.1:p.Asn871Ser
XM_011509367.1:c.2612A>G	XP_011507669.1:p.Asn871Ser
XM_011509368.1:c.2030A>G	XP_011507670.1:p.Asn677Ser
XM_011509369.1:c.1055A>G	XP_011507671.1:p.Asn352Ser
XM_011509365.2:c.2612A>G	XP_011507667.1:p.Asn871Ser
XM_011509369.2:c.1055A>G	XP_011507671.1:p.Asn352Ser
XM_017000851.1:c.1769A>G	XP_016856340.1:p.Asn590Ser
XM_017000852.1:c.2612A>G	XP_016856341.1:p.Asn871Ser
NM_201253.3:c.2612A>G MANE Select	NP_957705.1:p.Asn871Ser
NM_001193640.2:c.2276A>G	NP_001180569.1:p.Asn759Ser
NM_001257965.2:c.2405A>G	NP_001244894.1:p.Asn802Ser
NR_047563.2:n.2565A>G
NR_047564.2:n.2773A>G
NM_001257966.2:c.2128+5981A>G	NP_001244895.1:n.2128+5981A>G