Canonical Allele Identifier: CA2089982358
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364899A= , CM000675.2:g.48364899A= GRCh38
NC_000013.10:g.48939035A= , CM000675.1:g.48939035A= GRCh37
NC_000013.9:g.47837036A= NCBI36
NG_009009.1:g.66153A= , LRG_517:g.66153A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.867A= MANE Select ENSP00000267163.4:p.Lys289=
ENST00000650461.1:c.867A= ENSP00000497193.1:p.Lys289=
ENST00000267163.4:c.867A= ENSP00000267163.4:p.Lys289=
NM_000321.2:c.867A= , LRG_517t1:c.867A= NP_000312.2:p.Lys289=
XM_011535171.1:c.606A= XP_011533473.1:p.Lys202=
XM_011535171.2:c.606A= XP_011533473.1:p.Lys202=
NM_000321.3:c.867A= MANE Select NP_000312.2:p.Lys289=