Canonical Allele Identifier: CA2089971395
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380229G= , CM000675.2:g.48380229G= GRCh38
NC_000013.10:g.48954365G= , CM000675.1:g.48954365G= GRCh37
NC_000013.9:g.47852366G= NCBI36
NG_009009.1:g.81483G= , LRG_517:g.81483G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1486G= MANE Select ENSP00000267163.4:p.Ala496=
ENST00000650461.1:c.1486G= ENSP00000497193.1:p.Ala496=
ENST00000267163.4:c.1486G= ENSP00000267163.4:p.Ala496=
NM_000321.2:c.1486G= , LRG_517t1:c.1486G= NP_000312.2:p.Ala496=
XM_011535171.1:c.1225G= XP_011533473.1:p.Ala409=
XM_011535171.2:c.1225G= XP_011533473.1:p.Ala409=
NM_000321.3:c.1486G= MANE Select NP_000312.2:p.Ala496=