Canonical Allele Identifier: CA388163513
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1775200
dbSNP Id: rs1174618849

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381306G>C , CM000675.2:g.48381306G>C GRCh38
NC_000013.10:g.48955442G>C , CM000675.1:g.48955442G>C GRCh37
NC_000013.9:g.47853443G>C NCBI36
NG_009009.1:g.82560G>C , LRG_517:g.82560G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1558G>C MANE Select ENSP00000267163.4:p.Val520Leu
ENST00000643064.1:c.57G>C
ENST00000650461.1:c.1558G>C ENSP00000497193.1:p.Val520Leu
ENST00000267163.4:c.1558G>C ENSP00000267163.4:p.Val520Leu
NM_000321.2:c.1558G>C , LRG_517t1:c.1558G>C NP_000312.2:p.Val520Leu
XM_011535171.1:c.1297G>C XP_011533473.1:p.Val433Leu
XM_011535171.2:c.1297G>C XP_011533473.1:p.Val433Leu
NM_000321.3:c.1558G>C MANE Select NP_000312.2:p.Val520Leu