Canonical Allele Identifier: CA483711663

Gene: RB1

Linked Data

• ClinVar Variation Id: 2962389
• ClinVar RCV Id: RCV003825019
• dbSNP Id: rs2138028049
• gnomAD v4: 13-48304044-C-T
• MyVariant Identifiers: chr13:g.48878180C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304044C>T , CM000675.2:g.48304044C>T	GRCh38
NC_000013.10:g.48878180C>T , CM000675.1:g.48878180C>T	GRCh37
NC_000013.9:g.47776181C>T	NCBI36
NG_009009.1:g.5298C>T , LRG_517:g.5298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.132C>T MANE Select	ENSP00000267163.4:p.Leu44=
ENST00000646097.1:c.132C>T	ENSP00000496556.1:p.Leu44=
ENST00000650461.1:c.132C>T	ENSP00000497193.1:p.Leu44=
ENST00000267163.4:c.132C>T	ENSP00000267163.4:p.Leu44=
ENST00000467505.5:c.132C>T	ENSP00000434702.1:p.Leu44=
ENST00000525036.1:n.294C>T
NM_000321.2:c.132C>T , LRG_517t1:c.132C>T	NP_000312.2:p.Leu44=
NM_000321.3:c.132C>T MANE Select	NP_000312.2:p.Leu44=