Canonical Allele Identifier: CA4751845
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 866689
ClinVar RCV Id: RCV001074919 RCV001386850
dbSNP Id: rs373109791
ExAC: 8:55540769 C / T
gnomAD v2: 8-55540769-C-T
gnomAD v3: 8-54628209-C-T
gnomAD v4: 8-54628209-C-T
COSMIC: COSM241454
MyVariant Identifiers: chr8:g.55540769C>T (hg19) chr8:g.54628209C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628209C>T , CM000670.2:g.54628209C>T GRCh38
NC_000008.10:g.55540769C>T , CM000670.1:g.55540769C>T GRCh37
NC_000008.9:g.55703322C>T NCBI36
NG_009840.1:g.17143C>T
NG_009840.2:g.17143C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4327C>T MANE Select ENSP00000220676.1:p.Arg1443Trp
ENST00000636932.1:c.787+5921C>T ENSP00000489857.1:n.787+5921C>T
ENST00000637698.1:c.787+5921C>T ENSP00000490104.1:n.787+5921C>T
ENST00000220676.1:c.4327C>T ENSP00000220676.1:p.Arg1443Trp
NM_006269.1:c.4327C>T NP_006260.1:p.Arg1443Trp
XM_017013721.1:c.4348C>T XP_016869210.1:p.Arg1450Trp
XM_017013722.1:c.4327C>T XP_016869211.1:p.Arg1443Trp
NM_001375654.1:c.787+5921C>T NP_001362583.1:n.787+5921C>T
NM_006269.2:c.4327C>T MANE Select NP_006260.1:p.Arg1443Trp
Search 100 bp 5'
Search 100 bp 3'