Canonical Allele Identifier: CA16619811

Gene: RB1

Linked Data

• ClinVar Variation Id: 419970
• ClinVar RCV Id: RCV000483814 ; RCV000786882 ; RCV002525820 ; RCV000492670
• dbSNP Id: rs587776789
• COSMIC: COSM3936343 ; COSM3936344
• MyVariant Identifiers: chr13:g.48923160G>A (hg19) ; chr13:g.48349024G>A (hg38)
• PubMed: PMID:7795591 ; PMID:12541220 ; PMID:14722923 ; PMID:15884040 ; PMID:16343894

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349024G>A , CM000675.2:g.48349024G>A	GRCh38
NC_000013.10:g.48923160G>A , CM000675.1:g.48923160G>A	GRCh37
NC_000013.9:g.47821161G>A	NCBI36
NG_009009.1:g.50278G>A , LRG_517:g.50278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.607+1G>A MANE Select	ENSP00000267163.4:n.607+1G>A
ENST00000650461.1:c.607+1G>A	ENSP00000497193.1:n.607+1G>A
ENST00000267163.4:c.607+1G>A	ENSP00000267163.4:n.607+1G>A
ENST00000467505.5:c.138-10993G>A	ENSP00000434702.1:n.138-10993G>A
ENST00000525036.1:n.769+1G>A
NM_000321.2:c.607+1G>A , LRG_517t1:c.607+1G>A	NP_000312.2:n.607+1G>A
XM_011535171.1:c.346+1G>A	XP_011533473.1:n.346+1G>A
XM_011535171.2:c.346+1G>A	XP_011533473.1:n.346+1G>A
NM_000321.3:c.607+1G>A MANE Select	NP_000312.2:n.607+1G>A