Canonical Allele Identifier: CA461099574

Gene: RP1

Linked Data

• ClinVar Variation Id: 2133146
• ClinVar RCV Id: RCV003040791
• dbSNP Id: rs2129317404
• gnomAD v4: 8-54627854-G-A
• MyVariant Identifiers: chr8:g.55540414G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627854G>A , CM000670.2:g.54627854G>A	GRCh38
NC_000008.10:g.55540414G>A , CM000670.1:g.55540414G>A	GRCh37
NC_000008.9:g.55702967G>A	NCBI36
NG_009840.1:g.16788G>A
NG_009840.2:g.16788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3972G>A MANE Select	ENSP00000220676.1:p.Glu1324=
ENST00000636932.1:c.787+5566G>A	ENSP00000489857.1:n.787+5566G>A
ENST00000637698.1:c.787+5566G>A	ENSP00000490104.1:n.787+5566G>A
ENST00000220676.1:c.3972G>A	ENSP00000220676.1:p.Glu1324=
NM_006269.1:c.3972G>A	NP_006260.1:p.Glu1324=
XM_017013721.1:c.3993G>A	XP_016869210.1:p.Glu1331=
XM_017013722.1:c.3972G>A	XP_016869211.1:p.Glu1324=
NM_001375654.1:c.787+5566G>A	NP_001362583.1:n.787+5566G>A
NM_006269.2:c.3972G>A MANE Select	NP_006260.1:p.Glu1324=