Canonical Allele Identifier: CA026462

Gene: RB1

Linked Data

• ClinVar Variation Id: 135115
• ClinVar RCV Id: RCV000121915 ; RCV000477348 ; RCV000569325 ; RCV003945101
• dbSNP Id: rs587778637
• gnomAD v2: 13-48878107-C-T
• gnomAD v3: 13-48303971-C-T
• gnomAD v4: 13-48303971-C-T
• MyVariant Identifiers: chr13:g.48878107C>T (hg19) ; chr13:g.48303971C>T (hg38)
• PubMed: PMID:12541220 ; PMID:16343894 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303971C>T , CM000675.2:g.48303971C>T	GRCh38
NC_000013.10:g.48878107C>T , CM000675.1:g.48878107C>T	GRCh37
NC_000013.9:g.47776108C>T	NCBI36
NG_009009.1:g.5225C>T , LRG_517:g.5225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.59C>T MANE Select	ENSP00000267163.4:p.Pro20Leu
ENST00000646097.1:c.59C>T	ENSP00000496556.1:p.Pro20Leu
ENST00000650461.1:c.59C>T	ENSP00000497193.1:p.Pro20Leu
ENST00000267163.4:c.59C>T	ENSP00000267163.4:p.Pro20Leu
ENST00000467505.5:c.59C>T	ENSP00000434702.1:p.Pro20Leu
ENST00000525036.1:n.221C>T
NM_000321.2:c.59C>T , LRG_517t1:c.59C>T	NP_000312.2:p.Pro20Leu
NM_000321.3:c.59C>T MANE Select	NP_000312.2:p.Pro20Leu