Canonical Allele Identifier: CA177237100
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 957353
ClinVar RCV Id: RCV001230316 RCV004032699
dbSNP Id: rs892285778
gnomAD v2: 8-55538759-C-A
gnomAD v3: 8-54626199-C-A
gnomAD v4: 8-54626199-C-A
MyVariant Identifiers: chr8:g.55538759C>A (hg19) chr8:g.54626199C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626199C>A , CM000670.2:g.54626199C>A GRCh38
NC_000008.10:g.55538759C>A , CM000670.1:g.55538759C>A GRCh37
NC_000008.9:g.55701312C>A NCBI36
NG_009840.1:g.15133C>A
NG_009840.2:g.15133C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.2317C>A MANE Select ENSP00000220676.1:p.Leu773Ile
ENST00000636932.1:c.787+3911C>A ENSP00000489857.1:n.787+3911C>A
ENST00000637698.1:c.787+3911C>A ENSP00000490104.1:n.787+3911C>A
ENST00000220676.1:c.2317C>A ENSP00000220676.1:p.Leu773Ile
NM_006269.1:c.2317C>A NP_006260.1:p.Leu773Ile
XM_017013721.1:c.2338C>A XP_016869210.1:p.Leu780Ile
XM_017013722.1:c.2317C>A XP_016869211.1:p.Leu773Ile
NM_001375654.1:c.787+3911C>A NP_001362583.1:n.787+3911C>A
NM_006269.2:c.2317C>A MANE Select NP_006260.1:p.Leu773Ile
Search 100 bp 5'
Search 100 bp 3'