Canonical Allele Identifier: CA2089972414
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381321G= , CM000675.2:g.48381321G= GRCh38
NC_000013.10:g.48955457G= , CM000675.1:g.48955457G= GRCh37
NC_000013.9:g.47853458G= NCBI36
NG_009009.1:g.82575G= , LRG_517:g.82575G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1573G= MANE Select ENSP00000267163.4:p.Ala525=
ENST00000643064.1:c.72G=
ENST00000650461.1:c.1573G= ENSP00000497193.1:p.Ala525=
ENST00000267163.4:c.1573G= ENSP00000267163.4:p.Ala525=
NM_000321.2:c.1573G= , LRG_517t1:c.1573G= NP_000312.2:p.Ala525=
XM_011535171.1:c.1312G= XP_011533473.1:p.Ala438=
XM_011535171.2:c.1312G= XP_011533473.1:p.Ala438=
NM_000321.3:c.1573G= MANE Select NP_000312.2:p.Ala525=