Canonical Allele Identifier: CA026383
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126840
ClinVar RCV Id: RCV000114733 RCV000492730
dbSNP Id: rs121913303
gnomAD v4: 13-48381402-C-T
COSMIC: COSM887 COSM1300225
MyVariant Identifiers: chr13:g.48955538C>T (hg19) chr13:g.48381402C>T (hg38)
PubMed: PMID:12541220 PMID:15166261 PMID:24791139 PMID:25157968 PMID:25754945
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381402C>T , CM000675.2:g.48381402C>T GRCh38
NC_000013.10:g.48955538C>T , CM000675.1:g.48955538C>T GRCh37
NC_000013.9:g.47853539C>T NCBI36
NG_009009.1:g.82656C>T , LRG_517:g.82656C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1654C>T MANE Select ENSP00000267163.4:p.Arg552Ter
ENST00000643064.1:c.153C>T
ENST00000650461.1:c.1654C>T ENSP00000497193.1:p.Arg552Ter
ENST00000267163.4:c.1654C>T ENSP00000267163.4:p.Arg552Ter
NM_000321.2:c.1654C>T , LRG_517t1:c.1654C>T NP_000312.2:p.Arg552Ter
XM_011535171.1:c.1393C>T XP_011533473.1:p.Arg465Ter
XM_011535171.2:c.1393C>T XP_011533473.1:p.Arg465Ter
NM_000321.3:c.1654C>T MANE Select NP_000312.2:p.Arg552Ter
Search 100 bp 5'
Search 100 bp 3'