Canonical Allele Identifier: CA245310
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197273
dbSNP Id: rs148918111
gnomAD v2: 8-55540741-A-G
gnomAD v3: 8-54628181-A-G
gnomAD v4: 8-54628181-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628181A>G , CM000670.2:g.54628181A>G GRCh38
NC_000008.10:g.55540741A>G , CM000670.1:g.55540741A>G GRCh37
NC_000008.9:g.55703294A>G NCBI36
NG_009840.1:g.17115A>G
NG_009840.2:g.17115A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4299A>G MANE Select ENSP00000220676.1:p.Ala1433=
ENST00000636932.1:c.787+5893A>G ENSP00000489857.1:n.787+5893A>G
ENST00000637698.1:c.787+5893A>G ENSP00000490104.1:n.787+5893A>G
ENST00000220676.1:c.4299A>G ENSP00000220676.1:p.Ala1433=
NM_006269.1:c.4299A>G NP_006260.1:p.Ala1433=
XM_017013721.1:c.4320A>G XP_016869210.1:p.Ala1440=
XM_017013722.1:c.4299A>G XP_016869211.1:p.Ala1433=
NM_001375654.1:c.787+5893A>G NP_001362583.1:n.787+5893A>G
NM_006269.2:c.4299A>G MANE Select NP_006260.1:p.Ala1433=