Canonical Allele Identifier: CA4751504

Gene: RP1

Linked Data

• ClinVar Variation Id: 1964521
• ClinVar RCV Id: RCV002721417
• dbSNP Id: rs775731489
• ExAC: 8:55538738 C / A
• gnomAD v2: 8-55538738-C-A
• gnomAD v3: 8-54626178-C-A
• gnomAD v4: 8-54626178-C-A
• MyVariant Identifiers: chr8:g.55538738C>A (hg19) ; chr8:g.54626178C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626178C>A , CM000670.2:g.54626178C>A	GRCh38
NC_000008.10:g.55538738C>A , CM000670.1:g.55538738C>A	GRCh37
NC_000008.9:g.55701291C>A	NCBI36
NG_009840.1:g.15112C>A
NG_009840.2:g.15112C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2296C>A MANE Select	ENSP00000220676.1:p.Gln766Lys
ENST00000636932.1:c.787+3890C>A	ENSP00000489857.1:n.787+3890C>A
ENST00000637698.1:c.787+3890C>A	ENSP00000490104.1:n.787+3890C>A
ENST00000220676.1:c.2296C>A	ENSP00000220676.1:p.Gln766Lys
NM_006269.1:c.2296C>A	NP_006260.1:p.Gln766Lys
XM_017013721.1:c.2317C>A	XP_016869210.1:p.Gln773Lys
XM_017013722.1:c.2296C>A	XP_016869211.1:p.Gln766Lys
NM_001375654.1:c.787+3890C>A	NP_001362583.1:n.787+3890C>A
NM_006269.2:c.2296C>A MANE Select	NP_006260.1:p.Gln766Lys