Canonical Allele Identifier: CA2090021092
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476840G= , CM000675.2:g.48476840G= GRCh38
NC_000013.10:g.49050976G= , CM000675.1:g.49050976G= GRCh37
NC_000013.9:g.47948977G= NCBI36
NG_009009.1:g.178094G= , LRG_517:g.178094G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2660G= MANE Select ENSP00000267163.4:p.Gly887=
ENST00000643064.1:c.194+95397G=
ENST00000650461.1:c.2660G= ENSP00000497193.1:p.Gly887=
ENST00000267163.4:c.2660G= ENSP00000267163.4:p.Gly887=
ENST00000484879.1:n.394G=
ENST00000531171.5:n.263G=
NM_000321.2:c.2660G= , LRG_517t1:c.2660G= NP_000312.2:p.Gly887=
XM_011535171.1:c.2399G= XP_011533473.1:p.Gly800=
XM_011535171.2:c.2399G= XP_011533473.1:p.Gly800=
NM_000321.3:c.2660G= MANE Select NP_000312.2:p.Gly887=