Canonical Allele Identifier: CA4751538
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1151690
ClinVar RCV Id: RCV001492752
dbSNP Id: rs780108007
ExAC: 8:55538905 T / C
gnomAD v2: 8-55538905-T-C
gnomAD v3: 8-54626345-T-C
gnomAD v4: 8-54626345-T-C
MyVariant Identifiers: chr8:g.55538905T>C (hg19) chr8:g.54626345T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626345T>C , CM000670.2:g.54626345T>C GRCh38
NC_000008.10:g.55538905T>C , CM000670.1:g.55538905T>C GRCh37
NC_000008.9:g.55701458T>C NCBI36
NG_009840.1:g.15279T>C
NG_009840.2:g.15279T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.2463T>C MANE Select ENSP00000220676.1:p.His821=
ENST00000636932.1:c.787+4057T>C ENSP00000489857.1:n.787+4057T>C
ENST00000637698.1:c.787+4057T>C ENSP00000490104.1:n.787+4057T>C
ENST00000220676.1:c.2463T>C ENSP00000220676.1:p.His821=
NM_006269.1:c.2463T>C NP_006260.1:p.His821=
XM_017013721.1:c.2484T>C XP_016869210.1:p.His828=
XM_017013722.1:c.2463T>C XP_016869211.1:p.His821=
NM_001375654.1:c.787+4057T>C NP_001362583.1:n.787+4057T>C
NM_006269.2:c.2463T>C MANE Select NP_006260.1:p.His821=
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