Canonical Allele Identifier: CA10581674
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 236414
ClinVar RCV Id: RCV000225583 RCV000623072 RCV002516250
dbSNP Id: rs878853326
MyVariant Identifiers: chr8:g.55539191C>T (hg19) chr8:g.54626631C>T (hg38)
PubMed: PMID:11095597 PMID:15180241 PMID:16568030 PMID:22052604 PMID:23950152 PMID:25698705
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626631C>T , CM000670.2:g.54626631C>T GRCh38
NC_000008.10:g.55539191C>T , CM000670.1:g.55539191C>T GRCh37
NC_000008.9:g.55701744C>T NCBI36
NG_009840.1:g.15565C>T
NG_009840.2:g.15565C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000220676.2:c.2749C>T MANE Select ENSP00000220676.1:p.Gln917Ter
ENST00000636932.1:c.787+4343C>T ENSP00000489857.1:n.787+4343C>T
ENST00000637698.1:c.787+4343C>T ENSP00000490104.1:n.787+4343C>T
ENST00000220676.1:c.2749C>T ENSP00000220676.1:p.Gln917Ter
NM_006269.1:c.2749C>T NP_006260.1:p.Gln917Ter
XM_017013721.1:c.2770C>T XP_016869210.1:p.Gln924Ter
XM_017013722.1:c.2749C>T XP_016869211.1:p.Gln917Ter
NM_001375654.1:c.787+4343C>T NP_001362583.1:n.787+4343C>T
NM_006269.2:c.2749C>T MANE Select NP_006260.1:p.Gln917Ter
Search 100 bp 5'
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