Canonical Allele Identifier: CA4751806
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1918759
ClinVar RCV Id: RCV002602140
dbSNP Id: rs576421254
ExAC: 8:55540578 A / C
gnomAD v2: 8-55540578-A-C
gnomAD v3: 8-54628018-A-C
gnomAD v4: 8-54628018-A-C
MyVariant Identifiers: chr8:g.55540578A>C (hg19) chr8:g.54628018A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628018A>C , CM000670.2:g.54628018A>C GRCh38
NC_000008.10:g.55540578A>C , CM000670.1:g.55540578A>C GRCh37
NC_000008.9:g.55703131A>C NCBI36
NG_009840.1:g.16952A>C
NG_009840.2:g.16952A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4136A>C MANE Select ENSP00000220676.1:p.Glu1379Ala
ENST00000636932.1:c.787+5730A>C ENSP00000489857.1:n.787+5730A>C
ENST00000637698.1:c.787+5730A>C ENSP00000490104.1:n.787+5730A>C
ENST00000220676.1:c.4136A>C ENSP00000220676.1:p.Glu1379Ala
NM_006269.1:c.4136A>C NP_006260.1:p.Glu1379Ala
XM_017013721.1:c.4157A>C XP_016869210.1:p.Glu1386Ala
XM_017013722.1:c.4136A>C XP_016869211.1:p.Glu1379Ala
NM_001375654.1:c.787+5730A>C NP_001362583.1:n.787+5730A>C
NM_006269.2:c.4136A>C MANE Select NP_006260.1:p.Glu1379Ala
Search 100 bp 5'
Search 100 bp 3'