Canonical Allele Identifier: CA483711569

Gene: RB1

Linked Data

• ClinVar Variation Id: 819610
• ClinVar RCV Id: RCV001012306 ; RCV001439359 ; RCV003393781
• dbSNP Id: rs1593411934
• MyVariant Identifiers: chr13:g.48878063C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303927C>A , CM000675.2:g.48303927C>A	GRCh38
NC_000013.10:g.48878063C>A , CM000675.1:g.48878063C>A	GRCh37
NC_000013.9:g.47776064C>A	NCBI36
NG_009009.1:g.5181C>A , LRG_517:g.5181C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.15C>A MANE Select	ENSP00000267163.4:p.Thr5=
ENST00000646097.1:c.15C>A	ENSP00000496556.1:p.Thr5=
ENST00000650461.1:c.15C>A	ENSP00000497193.1:p.Thr5=
ENST00000267163.4:c.15C>A	ENSP00000267163.4:p.Thr5=
ENST00000467505.5:c.15C>A	ENSP00000434702.1:p.Thr5=
ENST00000525036.1:n.177C>A
NM_000321.2:c.15C>A , LRG_517t1:c.15C>A	NP_000312.2:p.Thr5=
NM_000321.3:c.15C>A MANE Select	NP_000312.2:p.Thr5=