Canonical Allele Identifier: CA2090021079
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476814T= , CM000675.2:g.48476814T= GRCh38
NC_000013.10:g.49050950T= , CM000675.1:g.49050950T= GRCh37
NC_000013.9:g.47948951T= NCBI36
NG_009009.1:g.178068T= , LRG_517:g.178068T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2634T= MANE Select ENSP00000267163.4:p.Asp878=
ENST00000643064.1:c.194+95371T=
ENST00000650461.1:c.2634T= ENSP00000497193.1:p.Asp878=
ENST00000267163.4:c.2634T= ENSP00000267163.4:p.Asp878=
ENST00000484879.1:n.368T=
ENST00000531171.5:n.237T=
NM_000321.2:c.2634T= , LRG_517t1:c.2634T= NP_000312.2:p.Asp878=
XM_011535171.1:c.2373T= XP_011533473.1:p.Asp791=
XM_011535171.2:c.2373T= XP_011533473.1:p.Asp791=
NM_000321.3:c.2634T= MANE Select NP_000312.2:p.Asp878=