Canonical Allele Identifier: CA483740180
Community Standard Title: NM_000321.3(RB1):c.2359C>A (p.Arg787=)
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48465238C>A , CM000675.2:g.48465238C>A GRCh38
NC_000013.10:g.49039374C>A , CM000675.1:g.49039374C>A GRCh37
NC_000013.9:g.47937375C>A NCBI36
NG_009009.1:g.166492C>A , LRG_517:g.166492C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000321.3:c.2359C>A MANE Select NP_000312.2:p.Arg787=
ENST00000267163.6:c.2359C>A MANE Select ENSP00000267163.4:p.Arg787=
NM_000321.2:c.2359C>A , LRG_517t1:c.2359C>A NP_000312.2:p.Arg787=
ENST00000267163.4:c.2359C>A ENSP00000267163.4:p.Arg787=
ENST00000643064.1:c.194+83795C>A
ENST00000650461.1:c.2359C>A ENSP00000497193.1:p.Arg787=
XM_011535171.1:c.2098C>A XP_011533473.1:p.Arg700=
XM_011535171.2:c.2098C>A XP_011533473.1:p.Arg700=