Canonical Allele Identifier: CA253667

Gene: RP1

Linked Data

• ClinVar Variation Id: 5968
• ClinVar RCV Id: RCV000006332 ; RCV001851696
• dbSNP Id: rs104894083
• MyVariant Identifiers: chr8:g.55538477C>T (hg19) ; chr8:g.54625917C>T (hg38)
• PubMed: PMID:10391212 ; PMID:10465120

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625917C>T , CM000670.2:g.54625917C>T	GRCh38
NC_000008.10:g.55538477C>T , CM000670.1:g.55538477C>T	GRCh37
NC_000008.9:g.55701030C>T	NCBI36
NG_009840.1:g.14851C>T
NG_009840.2:g.14851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2035C>T MANE Select	ENSP00000220676.1:p.Gln679Ter
ENST00000636932.1:c.787+3629C>T	ENSP00000489857.1:n.787+3629C>T
ENST00000637698.1:c.787+3629C>T	ENSP00000490104.1:n.787+3629C>T
ENST00000220676.1:c.2035C>T	ENSP00000220676.1:p.Gln679Ter
NM_006269.1:c.2035C>T	NP_006260.1:p.Gln679Ter
XM_017013721.1:c.2056C>T	XP_016869210.1:p.Gln686Ter
XM_017013722.1:c.2035C>T	XP_016869211.1:p.Gln679Ter
NM_001375654.1:c.787+3629C>T	NP_001362583.1:n.787+3629C>T
NM_006269.2:c.2035C>T MANE Select	NP_006260.1:p.Gln679Ter