Canonical Allele Identifier: CA026380
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135119
dbSNP Id: rs587778640

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1573G>A MANE Select ENSP00000267163.4:p.Ala525Thr
ENST00000643064.1:c.72G>A
ENST00000650461.1:c.1573G>A ENSP00000497193.1:p.Ala525Thr
ENST00000267163.4:c.1573G>A ENSP00000267163.4:p.Ala525Thr
NM_000321.2:c.1573G>A , LRG_517t1:c.1573G>A NP_000312.2:p.Ala525Thr
XM_011535171.1:c.1312G>A XP_011533473.1:p.Ala438Thr
XM_011535171.2:c.1312G>A XP_011533473.1:p.Ala438Thr
NM_000321.3:c.1573G>A MANE Select NP_000312.2:p.Ala525Thr