Canonical Allele Identifier: CA388158618
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428731
dbSNP Id: rs1131690904

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48360118G>T , CM000675.2:g.48360118G>T GRCh38
NC_000013.10:g.48934254G>T , CM000675.1:g.48934254G>T GRCh37
NC_000013.9:g.47832255G>T NCBI36
NG_009009.1:g.61372G>T , LRG_517:g.61372G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.709G>T MANE Select ENSP00000267163.4:p.Glu237Ter
ENST00000650461.1:c.709G>T ENSP00000497193.1:p.Glu237Ter
ENST00000267163.4:c.709G>T ENSP00000267163.4:p.Glu237Ter
ENST00000467505.5:c.*77G>T ENSP00000434702.1:n.*77G>T
ENST00000525036.1:n.871G>T
NM_000321.2:c.709G>T , LRG_517t1:c.709G>T NP_000312.2:p.Glu237Ter
XM_011535171.1:c.448G>T XP_011533473.1:p.Glu150Ter
XM_011535171.2:c.448G>T XP_011533473.1:p.Glu150Ter
NM_000321.3:c.709G>T MANE Select NP_000312.2:p.Glu237Ter