Canonical Allele Identifier: CA026373

Gene: RB1

Linked Data

• ClinVar Variation Id: 126837
• ClinVar RCV Id: RCV000486601 ; RCV000492246 ; RCV000114729 ; RCV003156072 ; RCV003332117
• dbSNP Id: rs121913302
• gnomAD v2: 13-48953760-C-T
• gnomAD v3: 13-48379624-C-T
• gnomAD v4: 13-48379624-C-T
• COSMIC: COSM895 ; COSM1367229
• MyVariant Identifiers: chr13:g.48953760C>T (hg19) ; chr13:g.48379624C>T (hg38)
• PubMed: PMID:8651278 ; PMID:11317357 ; PMID:17096365 ; PMID:19280657 ; PMID:22219649 ; PMID:23891399 ; PMID:23981928 ; PMID:24791139 ; PMID:25157968 ; PMID:25712084

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48379624C>T , CM000675.2:g.48379624C>T	GRCh38
NC_000013.10:g.48953760C>T , CM000675.1:g.48953760C>T	GRCh37
NC_000013.9:g.47851761C>T	NCBI36
NG_009009.1:g.80878C>T , LRG_517:g.80878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1363C>T MANE Select	ENSP00000267163.4:p.Arg455Ter
ENST00000650461.1:c.1363C>T	ENSP00000497193.1:p.Arg455Ter
ENST00000267163.4:c.1363C>T	ENSP00000267163.4:p.Arg455Ter
NM_000321.2:c.1363C>T , LRG_517t1:c.1363C>T	NP_000312.2:p.Arg455Ter
XM_011535171.1:c.1102C>T	XP_011533473.1:p.Arg368Ter
XM_011535171.2:c.1102C>T	XP_011533473.1:p.Arg368Ter
XR_002957522.1:n.40+211G>A
NM_000321.3:c.1363C>T MANE Select	NP_000312.2:p.Arg455Ter