Canonical Allele Identifier: CA026371

Gene: RB1

Linked Data

• ClinVar Variation Id: 13071
• ClinVar RCV Id: RCV000013946 ; RCV000492544 ; RCV002496351 ; RCV002508188
• dbSNP Id: rs3092891
• gnomAD v2: 13-48953730-C-T
• gnomAD v4: 13-48379594-C-T
• COSMIC: COSM880 ; COSM1367224
• MyVariant Identifiers: chr13:g.48953730C>T (hg19) ; chr13:g.48379594C>T (hg38)
• PubMed: PMID:2594029 ; PMID:12541220 ; PMID:17960112 ; PMID:22328814 ; PMID:24791139 ; PMID:25758528 ; PMID:26580448 ; PMID:26787237 ; PMID:27582626 ; PMID:28575107

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48379594C>T , CM000675.2:g.48379594C>T	GRCh38
NC_000013.10:g.48953730C>T , CM000675.1:g.48953730C>T	GRCh37
NC_000013.9:g.47851731C>T	NCBI36
NG_009009.1:g.80848C>T , LRG_517:g.80848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1333C>T MANE Select	ENSP00000267163.4:p.Arg445Ter
ENST00000650461.1:c.1333C>T	ENSP00000497193.1:p.Arg445Ter
ENST00000267163.4:c.1333C>T	ENSP00000267163.4:p.Arg445Ter
NM_000321.2:c.1333C>T , LRG_517t1:c.1333C>T	NP_000312.2:p.Arg445Ter
XM_011535171.1:c.1072C>T	XP_011533473.1:p.Arg358Ter
XM_011535171.2:c.1072C>T	XP_011533473.1:p.Arg358Ter
XR_002957522.1:n.40+241G>A
NM_000321.3:c.1333C>T MANE Select	NP_000312.2:p.Arg445Ter