Canonical Allele Identifier: CA370981691
Gene: RP1 HGNC NCBI

Linked Data

gnomAD v4: 8-54628092-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628092A>C , CM000670.2:g.54628092A>C GRCh38
NC_000008.10:g.55540652A>C , CM000670.1:g.55540652A>C GRCh37
NC_000008.9:g.55703205A>C NCBI36
NG_009840.1:g.17026A>C
NG_009840.2:g.17026A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4210A>C MANE Select ENSP00000220676.1:p.Ser1404Arg
ENST00000636932.1:c.787+5804A>C ENSP00000489857.1:n.787+5804A>C
ENST00000637698.1:c.787+5804A>C ENSP00000490104.1:n.787+5804A>C
ENST00000220676.1:c.4210A>C ENSP00000220676.1:p.Ser1404Arg
NM_006269.1:c.4210A>C NP_006260.1:p.Ser1404Arg
XM_017013721.1:c.4231A>C XP_016869210.1:p.Ser1411Arg
XM_017013722.1:c.4210A>C XP_016869211.1:p.Ser1404Arg
NM_001375654.1:c.787+5804A>C NP_001362583.1:n.787+5804A>C
NM_006269.2:c.4210A>C MANE Select NP_006260.1:p.Ser1404Arg