Canonical Allele Identifier: CA249287892
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 840248
dbSNP Id: rs149359120

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476746G>T , CM000675.2:g.48476746G>T GRCh38
NC_000013.10:g.49050882G>T , CM000675.1:g.49050882G>T GRCh37
NC_000013.9:g.47948883G>T NCBI36
NG_009009.1:g.178000G>T , LRG_517:g.178000G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2566G>T MANE Select ENSP00000267163.4:p.Asp856Tyr
ENST00000643064.1:c.194+95303G>T
ENST00000650461.1:c.2566G>T ENSP00000497193.1:p.Asp856Tyr
ENST00000267163.4:c.2566G>T ENSP00000267163.4:p.Asp856Tyr
ENST00000484879.1:n.300G>T
ENST00000531171.5:n.169G>T
NM_000321.2:c.2566G>T , LRG_517t1:c.2566G>T NP_000312.2:p.Asp856Tyr
XM_011535171.1:c.2305G>T XP_011533473.1:p.Asp769Tyr
XM_011535171.2:c.2305G>T XP_011533473.1:p.Asp769Tyr
NM_000321.3:c.2566G>T MANE Select NP_000312.2:p.Asp856Tyr