Canonical Allele Identifier: CA249842035
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1530137
ClinVar RCV Id: RCV002080181
dbSNP Id: rs999325303
gnomAD v3: 13-48304068-C-T
gnomAD v4: 13-48304068-C-T
MyVariant Identifiers: chr13:g.48878204C>T (hg19) chr13:g.48304068C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304068C>T , CM000675.2:g.48304068C>T GRCh38
NC_000013.10:g.48878204C>T , CM000675.1:g.48878204C>T GRCh37
NC_000013.9:g.47776205C>T NCBI36
NG_009009.1:g.5322C>T , LRG_517:g.5322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+19C>T MANE Select ENSP00000267163.4:n.137+19C>T
ENST00000646097.1:c.137+19C>T ENSP00000496556.1:n.137+19C>T
ENST00000650461.1:c.137+19C>T ENSP00000497193.1:n.137+19C>T
ENST00000267163.4:c.137+19C>T ENSP00000267163.4:n.137+19C>T
ENST00000467505.5:c.137+19C>T ENSP00000434702.1:n.137+19C>T
ENST00000525036.1:n.299+19C>T
NM_000321.2:c.137+19C>T , LRG_517t1:c.137+19C>T NP_000312.2:n.137+19C>T
NM_000321.3:c.137+19C>T MANE Select NP_000312.2:n.137+19C>T
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