Canonical Allele Identifier: CA026403

Gene: RB1

Linked Data

• ClinVar Variation Id: 135120
• ClinVar RCV Id: RCV000121920 ; RCV000457901 ; RCV000572000 ; RCV001570931 ; RCV003905163
• dbSNP Id: rs367578442
• ExAC: 13:49030386 C / A
• gnomAD v2: 13-49030386-C-A
• gnomAD v3: 13-48456250-C-A
• gnomAD v4: 13-48456250-C-A
• COSMIC: COSM1046 ; COSM1740016
• MyVariant Identifiers: chr13:g.49030386C>A (hg19) ; chr13:g.48456250C>A (hg38)
• PubMed: PMID:24728327 ; PMID:24791139

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48456250C>A , CM000675.2:g.48456250C>A	GRCh38
NC_000013.10:g.49030386C>A , CM000675.1:g.49030386C>A	GRCh37
NC_000013.9:g.47928387C>A	NCBI36
NG_009009.1:g.157504C>A , LRG_517:g.157504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1861C>A MANE Select	ENSP00000267163.4:p.Arg621Ser
ENST00000643064.1:c.194+74807C>A
ENST00000650461.1:c.1861C>A	ENSP00000497193.1:p.Arg621Ser
ENST00000267163.4:c.1861C>A	ENSP00000267163.4:p.Arg621Ser
ENST00000480491.1:n.560C>A
NM_000321.2:c.1861C>A , LRG_517t1:c.1861C>A	NP_000312.2:p.Arg621Ser
XM_011535171.1:c.1600C>A	XP_011533473.1:p.Arg534Ser
XM_011535171.2:c.1600C>A	XP_011533473.1:p.Arg534Ser
NM_000321.3:c.1861C>A MANE Select	NP_000312.2:p.Arg621Ser