Canonical Allele Identifier: CA4751471

Gene: RP1

Linked Data

• ClinVar Variation Id: 3019295
• ClinVar RCV Id: RCV003871926
• dbSNP Id: rs756630298
• ExAC: 8:55538483 A / G
• gnomAD v2: 8-55538483-A-G
• gnomAD v4: 8-54625923-A-G
• MyVariant Identifiers: chr8:g.55538483A>G (hg19) ; chr8:g.54625923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625923A>G , CM000670.2:g.54625923A>G	GRCh38
NC_000008.10:g.55538483A>G , CM000670.1:g.55538483A>G	GRCh37
NC_000008.9:g.55701036A>G	NCBI36
NG_009840.1:g.14857A>G
NG_009840.2:g.14857A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.2041A>G MANE Select	ENSP00000220676.1:p.Ile681Val
ENST00000636932.1:c.787+3635A>G	ENSP00000489857.1:n.787+3635A>G
ENST00000637698.1:c.787+3635A>G	ENSP00000490104.1:n.787+3635A>G
ENST00000220676.1:c.2041A>G	ENSP00000220676.1:p.Ile681Val
NM_006269.1:c.2041A>G	NP_006260.1:p.Ile681Val
XM_017013721.1:c.2062A>G	XP_016869210.1:p.Ile688Val
XM_017013722.1:c.2041A>G	XP_016869211.1:p.Ile681Val
NM_001375654.1:c.787+3635A>G	NP_001362583.1:n.787+3635A>G
NM_006269.2:c.2041A>G MANE Select	NP_006260.1:p.Ile681Val