Canonical Allele Identifier: CA344045220

Gene: CRB1

Linked Data

• ClinVar Variation Id: 973913
• ClinVar RCV Id: RCV001250613 ; RCV003331092
• dbSNP Id: rs62636274
• gnomAD v4: 1-197434937-G-A
• MyVariant Identifiers: chr1:g.197404067G>A (hg19) ; chr1:g.197434937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434937G>A , CM000663.2:g.197434937G>A	GRCh38
NC_000001.10:g.197404067G>A , CM000663.1:g.197404067G>A	GRCh37
NC_000001.9:g.195670690G>A	NCBI36
NG_008483.1:g.171660G>A
NG_008483.2:g.238476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3074G>A MANE Select	ENSP00000356370.3:p.Ser1025Asn
ENST00000638467.1:c.3074G>A	ENSP00000491102.1:p.Ser1025Asn
ENST00000681519.1:c.1955G>A	ENSP00000505267.1:p.Ser652Asn
ENST00000367397.1:c.1217G>A	ENSP00000356367.1:p.Ser406Asn
ENST00000367399.6:c.2738G>A	ENSP00000356369.2:p.Ser913Asn
ENST00000367400.7:c.3074G>A	ENSP00000356370.3:p.Ser1025Asn
ENST00000484075.5:c.3074G>A	ENSP00000433932.1:p.Ser1025Asn
ENST00000535699.5:c.3002G>A	ENSP00000438786.1:p.Ser1001Asn
ENST00000538660.5:c.2129-663G>A	ENSP00000438091.1:n.2129-663G>A
NM_001193640.1:c.2738G>A	NP_001180569.1:p.Ser913Asn
NM_001257965.1:c.3002G>A	NP_001244894.1:p.Ser1001Asn
NM_001257966.1:c.2129-663G>A	NP_001244895.1:n.2129-663G>A
NM_201253.2:c.3074G>A	NP_957705.1:p.Ser1025Asn
NR_047563.1:n.3075G>A
NR_047564.1:n.3283G>A
XM_011509365.1:c.3074G>A	XP_011507667.1:p.Ser1025Asn
XM_011509366.1:c.3074G>A	XP_011507668.1:p.Ser1025Asn
XM_011509367.1:c.3074G>A	XP_011507669.1:p.Ser1025Asn
XM_011509368.1:c.2492G>A	XP_011507670.1:p.Ser831Asn
XM_011509369.1:c.1517G>A	XP_011507671.1:p.Ser506Asn
XM_011509365.2:c.3074G>A	XP_011507667.1:p.Ser1025Asn
XM_011509369.2:c.1517G>A	XP_011507671.1:p.Ser506Asn
XM_017000851.1:c.2231G>A	XP_016856340.1:p.Ser744Asn
XM_017000852.1:c.3209G>A	XP_016856341.1:p.Ser1070Asn
NM_201253.3:c.3074G>A MANE Select	NP_957705.1:p.Ser1025Asn
NM_001193640.2:c.2738G>A	NP_001180569.1:p.Ser913Asn
NM_001257965.2:c.3002G>A	NP_001244894.1:p.Ser1001Asn
NR_047563.2:n.3027G>A
NR_047564.2:n.3235G>A
NM_001257966.2:c.2129-663G>A	NP_001244895.1:n.2129-663G>A