Canonical Allele Identifier: CA388157368
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138359266

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476770G>C , CM000675.2:g.48476770G>C GRCh38
NC_000013.10:g.49050906G>C , CM000675.1:g.49050906G>C GRCh37
NC_000013.9:g.47948907G>C NCBI36
NG_009009.1:g.178024G>C , LRG_517:g.178024G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2590G>C MANE Select ENSP00000267163.4:p.Glu864Gln
ENST00000643064.1:c.194+95327G>C
ENST00000650461.1:c.2590G>C ENSP00000497193.1:p.Glu864Gln
ENST00000267163.4:c.2590G>C ENSP00000267163.4:p.Glu864Gln
ENST00000484879.1:n.324G>C
ENST00000531171.5:n.193G>C
NM_000321.2:c.2590G>C , LRG_517t1:c.2590G>C NP_000312.2:p.Glu864Gln
XM_011535171.1:c.2329G>C XP_011533473.1:p.Glu777Gln
XM_011535171.2:c.2329G>C XP_011533473.1:p.Glu777Gln
NM_000321.3:c.2590G>C MANE Select NP_000312.2:p.Glu864Gln