Canonical Allele Identifier: CA388250389
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486295
ClinVar RCV Id: RCV000569605
dbSNP Id: rs1555279239

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304040C>G , CM000675.2:g.48304040C>G GRCh38
NC_000013.10:g.48878176C>G , CM000675.1:g.48878176C>G GRCh37
NC_000013.9:g.47776177C>G NCBI36
NG_009009.1:g.5294C>G , LRG_517:g.5294C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.128C>G MANE Select ENSP00000267163.4:p.Pro43Arg
ENST00000646097.1:c.128C>G ENSP00000496556.1:p.Pro43Arg
ENST00000650461.1:c.128C>G ENSP00000497193.1:p.Pro43Arg
ENST00000267163.4:c.128C>G ENSP00000267163.4:p.Pro43Arg
ENST00000467505.5:c.128C>G ENSP00000434702.1:p.Pro43Arg
ENST00000525036.1:n.290C>G
NM_000321.2:c.128C>G , LRG_517t1:c.128C>G NP_000312.2:p.Pro43Arg
NM_000321.3:c.128C>G MANE Select NP_000312.2:p.Pro43Arg