Canonical Allele Identifier: CA035361

Gene: RB1

Linked Data

• ClinVar Variation Id: 403366
• ClinVar RCV Id: RCV000455977 ; RCV000459571 ; RCV000566207 ; RCV000859119
• dbSNP Id: rs748094394
• ExAC: 13:49039375 G / A
• gnomAD v2: 13-49039375-G-A
• gnomAD v3: 13-48465239-G-A
• gnomAD v4: 13-48465239-G-A
• COSMIC: COSM947805 ; COSM1587091
• MyVariant Identifiers: chr13:g.49039375G>A (hg19) ; chr13:g.48465239G>A (hg38)
• PubMed: PMID:15605413 ; PMID:16269091

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48465239G>A , CM000675.2:g.48465239G>A	GRCh38
NC_000013.10:g.49039375G>A , CM000675.1:g.49039375G>A	GRCh37
NC_000013.9:g.47937376G>A	NCBI36
NG_009009.1:g.166493G>A , LRG_517:g.166493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2360G>A MANE Select	ENSP00000267163.4:p.Arg787Gln
ENST00000643064.1:c.194+83796G>A
ENST00000650461.1:c.2360G>A	ENSP00000497193.1:p.Arg787Gln
ENST00000267163.4:c.2360G>A	ENSP00000267163.4:p.Arg787Gln
NM_000321.2:c.2360G>A , LRG_517t1:c.2360G>A	NP_000312.2:p.Arg787Gln
XM_011535171.1:c.2099G>A	XP_011533473.1:p.Arg700Gln
XM_011535171.2:c.2099G>A	XP_011533473.1:p.Arg700Gln
NM_000321.3:c.2360G>A MANE Select	NP_000312.2:p.Arg787Gln