Canonical Allele Identifier: CA370993031

Gene: RP1

Linked Data

• ClinVar Variation Id: 437952
• ClinVar RCV Id: RCV000505089 ; RCV000760556 ; RCV003889913
• dbSNP Id: rs1554519555
• MyVariant Identifiers: chr8:g.55538661C>G (hg19) ; chr8:g.54626101C>G (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626101C>G , CM000670.2:g.54626101C>G	GRCh38
NC_000008.10:g.55538661C>G , CM000670.1:g.55538661C>G	GRCh37
NC_000008.9:g.55701214C>G	NCBI36
NG_009840.1:g.15035C>G
NG_009840.2:g.15035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2219C>G MANE Select	ENSP00000220676.1:p.Ser740Ter
ENST00000636932.1:c.787+3813C>G	ENSP00000489857.1:n.787+3813C>G
ENST00000637698.1:c.787+3813C>G	ENSP00000490104.1:n.787+3813C>G
ENST00000220676.1:c.2219C>G	ENSP00000220676.1:p.Ser740Ter
NM_006269.1:c.2219C>G	NP_006260.1:p.Ser740Ter
XM_017013721.1:c.2240C>G	XP_016869210.1:p.Ser747Ter
XM_017013722.1:c.2219C>G	XP_016869211.1:p.Ser740Ter
NM_001375654.1:c.787+3813C>G	NP_001362583.1:n.787+3813C>G
NM_006269.2:c.2219C>G MANE Select	NP_006260.1:p.Ser740Ter