Canonical Allele Identifier: CA2090014138
Community Standard Title: NM_000321.3(RB1):c.2359C= (p.Arg787=)
Gene: RB1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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