Canonical Allele Identifier: CA4751828
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3012535
ClinVar RCV Id: RCV003875662 RCV003889358
dbSNP Id: rs766709333
ExAC: 8:55540691 C / G
gnomAD v2: 8-55540691-C-G
gnomAD v3: 8-54628131-C-G
gnomAD v4: 8-54628131-C-G
MyVariant Identifiers: chr8:g.55540691C>G (hg19) chr8:g.54628131C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628131C>G , CM000670.2:g.54628131C>G GRCh38
NC_000008.10:g.55540691C>G , CM000670.1:g.55540691C>G GRCh37
NC_000008.9:g.55703244C>G NCBI36
NG_009840.1:g.17065C>G
NG_009840.2:g.17065C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4249C>G MANE Select ENSP00000220676.1:p.Leu1417Val
ENST00000636932.1:c.787+5843C>G ENSP00000489857.1:n.787+5843C>G
ENST00000637698.1:c.787+5843C>G ENSP00000490104.1:n.787+5843C>G
ENST00000220676.1:c.4249C>G ENSP00000220676.1:p.Leu1417Val
NM_006269.1:c.4249C>G NP_006260.1:p.Leu1417Val
XM_017013721.1:c.4270C>G XP_016869210.1:p.Leu1424Val
XM_017013722.1:c.4249C>G XP_016869211.1:p.Leu1417Val
NM_001375654.1:c.787+5843C>G NP_001362583.1:n.787+5843C>G
NM_006269.2:c.4249C>G MANE Select NP_006260.1:p.Leu1417Val
Search 100 bp 5'
Search 100 bp 3'