Canonical Allele Identifier: CA2089972507
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381407T= , CM000675.2:g.48381407T= GRCh38
NC_000013.10:g.48955543T= , CM000675.1:g.48955543T= GRCh37
NC_000013.9:g.47853544T= NCBI36
NG_009009.1:g.82661T= , LRG_517:g.82661T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1659T= MANE Select ENSP00000267163.4:p.Cys553=
ENST00000643064.1:c.158T=
ENST00000650461.1:c.1659T= ENSP00000497193.1:p.Cys553=
ENST00000267163.4:c.1659T= ENSP00000267163.4:p.Cys553=
NM_000321.2:c.1659T= , LRG_517t1:c.1659T= NP_000312.2:p.Cys553=
XM_011535171.1:c.1398T= XP_011533473.1:p.Cys466=
XM_011535171.2:c.1398T= XP_011533473.1:p.Cys466=
NM_000321.3:c.1659T= MANE Select NP_000312.2:p.Cys553=