Canonical Allele Identifier: CA16042643
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372953
ClinVar RCV Id: RCV000414196
dbSNP Id: rs1057518097
MyVariant Identifiers: chr8:g.55542081C>G (hg19) chr8:g.54629521C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54629521C>G , CM000670.2:g.54629521C>G GRCh38
NC_000008.10:g.55542081C>G , CM000670.1:g.55542081C>G GRCh37
NC_000008.9:g.55704634C>G NCBI36
NG_009840.1:g.18455C>G
NG_009840.2:g.18455C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000220676.2:c.5639C>G MANE Select ENSP00000220676.1:p.Pro1880Arg
ENST00000636932.1:c.787+7233C>G ENSP00000489857.1:n.787+7233C>G
ENST00000637698.1:c.787+7233C>G ENSP00000490104.1:n.787+7233C>G
ENST00000220676.1:c.5639C>G ENSP00000220676.1:p.Pro1880Arg
NM_006269.1:c.5639C>G NP_006260.1:p.Pro1880Arg
XM_017013721.1:c.5660C>G XP_016869210.1:p.Pro1887Arg
XM_017013722.1:c.5639C>G XP_016869211.1:p.Pro1880Arg
NM_001375654.1:c.787+7233C>G NP_001362583.1:n.787+7233C>G
NM_006269.2:c.5639C>G MANE Select NP_006260.1:p.Pro1880Arg
Search 100 bp 5'
Search 100 bp 3'