Canonical Allele Identifier: CA2090021080
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476816T= , CM000675.2:g.48476816T= GRCh38
NC_000013.10:g.49050952T= , CM000675.1:g.49050952T= GRCh37
NC_000013.9:g.47948953T= NCBI36
NG_009009.1:g.178070T= , LRG_517:g.178070T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2636T= MANE Select ENSP00000267163.4:p.Ile879=
ENST00000643064.1:c.194+95373T=
ENST00000650461.1:c.2636T= ENSP00000497193.1:p.Ile879=
ENST00000267163.4:c.2636T= ENSP00000267163.4:p.Ile879=
ENST00000484879.1:n.370T=
ENST00000531171.5:n.239T=
NM_000321.2:c.2636T= , LRG_517t1:c.2636T= NP_000312.2:p.Ile879=
XM_011535171.1:c.2375T= XP_011533473.1:p.Ile792=
XM_011535171.2:c.2375T= XP_011533473.1:p.Ile792=
NM_000321.3:c.2636T= MANE Select NP_000312.2:p.Ile879=