Canonical Allele Identifier: CA388250392
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054272
ClinVar RCV Id: RCV001362751 RCV003469598
dbSNP Id: rs1345893304
gnomAD v4: 13-48304042-C-G
MyVariant Identifiers: chr13:g.48878178C>G (hg19) chr13:g.48304042C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304042C>G , CM000675.2:g.48304042C>G GRCh38
NC_000013.10:g.48878178C>G , CM000675.1:g.48878178C>G GRCh37
NC_000013.9:g.47776179C>G NCBI36
NG_009009.1:g.5296C>G , LRG_517:g.5296C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.130C>G MANE Select ENSP00000267163.4:p.Leu44Val
ENST00000646097.1:c.130C>G ENSP00000496556.1:p.Leu44Val
ENST00000650461.1:c.130C>G ENSP00000497193.1:p.Leu44Val
ENST00000267163.4:c.130C>G ENSP00000267163.4:p.Leu44Val
ENST00000467505.5:c.130C>G ENSP00000434702.1:p.Leu44Val
ENST00000525036.1:n.292C>G
NM_000321.2:c.130C>G , LRG_517t1:c.130C>G NP_000312.2:p.Leu44Val
NM_000321.3:c.130C>G MANE Select NP_000312.2:p.Leu44Val
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