Canonical Allele Identifier: CA388250226
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 825440
dbSNP Id: rs1593412070

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303962C>T , CM000675.2:g.48303962C>T GRCh38
NC_000013.10:g.48878098C>T , CM000675.1:g.48878098C>T GRCh37
NC_000013.9:g.47776099C>T NCBI36
NG_009009.1:g.5216C>T , LRG_517:g.5216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.50C>T MANE Select ENSP00000267163.4:p.Ala17Val
ENST00000646097.1:c.50C>T ENSP00000496556.1:p.Ala17Val
ENST00000650461.1:c.50C>T ENSP00000497193.1:p.Ala17Val
ENST00000267163.4:c.50C>T ENSP00000267163.4:p.Ala17Val
ENST00000467505.5:c.50C>T ENSP00000434702.1:p.Ala17Val
ENST00000525036.1:n.212C>T
NM_000321.2:c.50C>T , LRG_517t1:c.50C>T NP_000312.2:p.Ala17Val
NM_000321.3:c.50C>T MANE Select NP_000312.2:p.Ala17Val