Canonical Allele Identifier: CA148465
Gene: RP1 HGNC NCBI
COSMIC:
COSM4163022 (not active)
MyVariant.info:
GRCh38 chr8:g.54628953T>C
GRCh37 chr8:g.55541513T>C
Revel Score:
ENST00000220676 (MANE Select) 0.053
gnomAD v2:
8:55541513 T / C
gnomAD v3:
8:54628953 T / C
gnomAD v4:
chr8-54628953-T-C
Joint Max Group AF 0.40223942 (EAS)
Genomes Max Group AF 0.40646698 (EAS)
Exomes Max Group AF 0.40011853 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628953T>C , CM000670.2:g.54628953T>C GRCh38
NC_000008.10:g.55541513T>C , CM000670.1:g.55541513T>C GRCh37
NC_000008.9:g.55704066T>C NCBI36
NG_009840.1:g.17887T>C
NG_009840.2:g.17887T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.5071T>C MANE Select ENSP00000220676.1:p.Ser1691Pro
ENST00000636932.1:c.787+6665T>C ENSP00000489857.1:n.787+6665T>C
ENST00000637698.1:c.787+6665T>C ENSP00000490104.1:n.787+6665T>C
ENST00000220676.1:c.5071T>C ENSP00000220676.1:p.Ser1691Pro
NM_006269.1:c.5071T>C NP_006260.1:p.Ser1691Pro
XM_017013721.1:c.5092T>C XP_016869210.1:p.Ser1698Pro
XM_017013722.1:c.5071T>C XP_016869211.1:p.Ser1691Pro
NM_001375654.1:c.787+6665T>C NP_001362583.1:n.787+6665T>C
NM_006269.2:c.5071T>C MANE Select NP_006260.1:p.Ser1691Pro
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