Canonical Allele Identifier: CA388250366
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454297
ClinVar RCV Id: RCV001941800
dbSNP Id: rs1593412262
gnomAD v4: 13-48304030-G-T
MyVariant Identifiers: chr13:g.48878166G>T (hg19) chr13:g.48304030G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304030G>T , CM000675.2:g.48304030G>T GRCh38
NC_000013.10:g.48878166G>T , CM000675.1:g.48878166G>T GRCh37
NC_000013.9:g.47776167G>T NCBI36
NG_009009.1:g.5284G>T , LRG_517:g.5284G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.118G>T MANE Select ENSP00000267163.4:p.Glu40Ter
ENST00000646097.1:c.118G>T ENSP00000496556.1:p.Glu40Ter
ENST00000650461.1:c.118G>T ENSP00000497193.1:p.Glu40Ter
ENST00000267163.4:c.118G>T ENSP00000267163.4:p.Glu40Ter
ENST00000467505.5:c.118G>T ENSP00000434702.1:p.Glu40Ter
ENST00000525036.1:n.280G>T
NM_000321.2:c.118G>T , LRG_517t1:c.118G>T NP_000312.2:p.Glu40Ter
NM_000321.3:c.118G>T MANE Select NP_000312.2:p.Glu40Ter
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Search 100 bp 3'