Canonical Allele Identifier: CA026363
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13076
ClinVar RCV Id: RCV000013951 RCV000492492 RCV000725187
dbSNP Id: rs121913301
COSMIC: COSM879 COSM4776098
MyVariant Identifiers: chr13:g.48942685C>T (hg19) chr13:g.48368549C>T (hg38)
PubMed: PMID:2594029 PMID:7795591 PMID:12541220 PMID:14769601 PMID:15884040 PMID:22328814 PMID:24688104 PMID:25157968 PMID:25754945 PMID:25928201 PMID:26396485
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368549C>T , CM000675.2:g.48368549C>T GRCh38
NC_000013.10:g.48942685C>T , CM000675.1:g.48942685C>T GRCh37
NC_000013.9:g.47840686C>T NCBI36
NG_009009.1:g.69803C>T , LRG_517:g.69803C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1072C>T MANE Select ENSP00000267163.4:p.Arg358Ter
ENST00000650461.1:c.1072C>T ENSP00000497193.1:p.Arg358Ter
ENST00000267163.4:c.1072C>T ENSP00000267163.4:p.Arg358Ter
NM_000321.2:c.1072C>T , LRG_517t1:c.1072C>T NP_000312.2:p.Arg358Ter
XM_011535171.1:c.811C>T XP_011533473.1:p.Arg271Ter
XM_011535171.2:c.811C>T XP_011533473.1:p.Arg271Ter
XR_002957522.1:n.122-3573G>A
NM_000321.3:c.1072C>T MANE Select NP_000312.2:p.Arg358Ter
Search 100 bp 5'
Search 100 bp 3'