Canonical Allele Identifier: CA16606128
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391250
ClinVar RCV Id: RCV000430567
dbSNP Id: rs1057524016

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626452C>G , CM000670.2:g.54626452C>G GRCh38
NC_000008.10:g.55539012C>G , CM000670.1:g.55539012C>G GRCh37
NC_000008.9:g.55701565C>G NCBI36
NG_009840.1:g.15386C>G
NG_009840.2:g.15386C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000220676.2:c.2570C>G MANE Select ENSP00000220676.1:p.Ser857Ter
ENST00000636932.1:c.787+4164C>G ENSP00000489857.1:n.787+4164C>G
ENST00000637698.1:c.787+4164C>G ENSP00000490104.1:n.787+4164C>G
ENST00000220676.1:c.2570C>G ENSP00000220676.1:p.Ser857Ter
NM_006269.1:c.2570C>G NP_006260.1:p.Ser857Ter
XM_017013721.1:c.2591C>G XP_016869210.1:p.Ser864Ter
XM_017013722.1:c.2570C>G XP_016869211.1:p.Ser857Ter
NM_001375654.1:c.787+4164C>G NP_001362583.1:n.787+4164C>G
NM_006269.2:c.2570C>G MANE Select NP_006260.1:p.Ser857Ter