Canonical Allele Identifier: CA026433
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13078
dbSNP Id: rs121913297

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48465028G>T , CM000675.2:g.48465028G>T GRCh38
NC_000013.10:g.49039164G>T , CM000675.1:g.49039164G>T GRCh37
NC_000013.9:g.47937165G>T NCBI36
NG_009009.1:g.166282G>T , LRG_517:g.166282G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2242G>T MANE Select ENSP00000267163.4:p.Glu748Ter
ENST00000643064.1:c.194+83585G>T
ENST00000650461.1:c.2242G>T ENSP00000497193.1:p.Glu748Ter
ENST00000267163.4:c.2242G>T ENSP00000267163.4:p.Glu748Ter
NM_000321.2:c.2242G>T , LRG_517t1:c.2242G>T NP_000312.2:p.Glu748Ter
XM_011535171.1:c.1981G>T XP_011533473.1:p.Glu661Ter
XM_011535171.2:c.1981G>T XP_011533473.1:p.Glu661Ter
NM_000321.3:c.2242G>T MANE Select NP_000312.2:p.Glu748Ter