Canonical Allele Identifier: CA2089950069
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303963C= , CM000675.2:g.48303963C= GRCh38
NC_000013.10:g.48878099C= , CM000675.1:g.48878099C= GRCh37
NC_000013.9:g.47776100C= NCBI36
NG_009009.1:g.5217C= , LRG_517:g.5217C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.51C= MANE Select ENSP00000267163.4:p.Ala17=
ENST00000646097.1:c.51C= ENSP00000496556.1:p.Ala17=
ENST00000650461.1:c.51C= ENSP00000497193.1:p.Ala17=
ENST00000267163.4:c.51C= ENSP00000267163.4:p.Ala17=
ENST00000467505.5:c.51C= ENSP00000434702.1:p.Ala17=
ENST00000525036.1:n.213C=
NM_000321.2:c.51C= , LRG_517t1:c.51C= NP_000312.2:p.Ala17=
NM_000321.3:c.51C= MANE Select NP_000312.2:p.Ala17=