Canonical Allele Identifier: CA026463

Gene: RB1

Linked Data

• ClinVar Variation Id: 13093
• ClinVar RCV Id: RCV000013969 ; RCV000484757 ; RCV000492204
• dbSNP Id: rs587776789
• gnomAD v4: 13-48349024-G-T
• COSMIC: COSM3957233 ; COSM3957234
• MyVariant Identifiers: chr13:g.48923160G>T (hg19) ; chr13:g.48349024G>T (hg38)
• PubMed: PMID:8651278 ; PMID:12016586 ; PMID:17096365 ; PMID:18000883 ; PMID:28575107

Genomic Alleles

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

Transcript Alleles

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