Canonical Allele Identifier: CA026367

Gene: RB1

Linked Data

• ClinVar Variation Id: 126832
• ClinVar RCV Id: RCV000114724 ; RCV000492136 ; RCV000763334 ; RCV003460796
• dbSNP Id: rs587776783
• ExAC: 13:48947629 G / A
• gnomAD v2: 13-48947629-G-A
• gnomAD v4: 13-48373493-G-A
• COSMIC: COSM1015 ; COSM1152654
• MyVariant Identifiers: chr13:g.48947629G>A (hg19) ; chr13:g.48373493G>A (hg38)
• PubMed: PMID:2601691 ; PMID:9311732 ; PMID:9973307 ; PMID:12541220 ; PMID:12955724 ; PMID:14722923 ; PMID:15605413 ; PMID:15776430 ; PMID:15884040 ; PMID:17096365 ; PMID:17960112 ; PMID:18181215

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48373493G>A , CM000675.2:g.48373493G>A	GRCh38
NC_000013.10:g.48947629G>A , CM000675.1:g.48947629G>A	GRCh37
NC_000013.9:g.47845630G>A	NCBI36
NG_009009.1:g.74747G>A , LRG_517:g.74747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1215+1G>A MANE Select	ENSP00000267163.4:n.1215+1G>A
ENST00000650461.1:c.1215+1G>A	ENSP00000497193.1:n.1215+1G>A
ENST00000267163.4:c.1215+1G>A	ENSP00000267163.4:n.1215+1G>A
NM_000321.2:c.1215+1G>A , LRG_517t1:c.1215+1G>A	NP_000312.2:n.1215+1G>A
XM_011535171.1:c.954+1G>A	XP_011533473.1:n.954+1G>A
XM_011535171.2:c.954+1G>A	XP_011533473.1:n.954+1G>A
XR_002957522.1:n.121+667C>T
NM_000321.3:c.1215+1G>A MANE Select	NP_000312.2:n.1215+1G>A