Canonical Allele Identifier: CA026417

Gene: RB1

Linked Data

• ClinVar Variation Id: 13087
• ClinVar RCV Id: RCV000013962 ; RCV000492717 ; RCV000510137 ; RCV000763335 ; RCV000790652
• dbSNP Id: rs137853294
• ExAC: 13:49033844 C / T
• gnomAD v2: 13-49033844-C-T
• gnomAD v4: 13-48459708-C-T
• COSMIC: COSM861 ; COSM1367287
• MyVariant Identifiers: chr13:g.49033844C>T (hg19) ; chr13:g.48459708C>T (hg38)
• PubMed: PMID:1352883 ; PMID:7881418 ; PMID:9632788 ; PMID:9671401 ; PMID:10486322 ; PMID:10966849 ; PMID:12541220 ; PMID:20041224 ; PMID:23891399 ; PMID:24688104 ; PMID:28877932

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459708C>T , CM000675.2:g.48459708C>T	GRCh38
NC_000013.10:g.49033844C>T , CM000675.1:g.49033844C>T	GRCh37
NC_000013.9:g.47931845C>T	NCBI36
NG_009009.1:g.160962C>T , LRG_517:g.160962C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1981C>T MANE Select	ENSP00000267163.4:p.Arg661Trp
ENST00000643064.1:c.194+78265C>T
ENST00000650461.1:c.1981C>T	ENSP00000497193.1:p.Arg661Trp
ENST00000267163.4:c.1981C>T	ENSP00000267163.4:p.Arg661Trp
NM_000321.2:c.1981C>T , LRG_517t1:c.1981C>T	NP_000312.2:p.Arg661Trp
XM_011535171.1:c.1720C>T	XP_011533473.1:p.Arg574Trp
XM_011535171.2:c.1720C>T	XP_011533473.1:p.Arg574Trp
NM_000321.3:c.1981C>T MANE Select	NP_000312.2:p.Arg661Trp