Canonical Allele Identifier: CA2089950405
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304040C= , CM000675.2:g.48304040C= GRCh38
NC_000013.10:g.48878176C= , CM000675.1:g.48878176C= GRCh37
NC_000013.9:g.47776177C= NCBI36
NG_009009.1:g.5294C= , LRG_517:g.5294C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.128C= MANE Select ENSP00000267163.4:p.Pro43=
ENST00000646097.1:c.128C= ENSP00000496556.1:p.Pro43=
ENST00000650461.1:c.128C= ENSP00000497193.1:p.Pro43=
ENST00000267163.4:c.128C= ENSP00000267163.4:p.Pro43=
ENST00000467505.5:c.128C= ENSP00000434702.1:p.Pro43=
ENST00000525036.1:n.290C=
NM_000321.2:c.128C= , LRG_517t1:c.128C= NP_000312.2:p.Pro43=
NM_000321.3:c.128C= MANE Select NP_000312.2:p.Pro43=