Canonical Allele Identifier: CA026452

Gene: RB1

Linked Data

• ClinVar Variation Id: 92844
• ClinVar RCV Id: RCV000078640 ; RCV000231569 ; RCV001727560 ; RCV001762205 ; RCV002257403
• dbSNP Id: rs187110786
• ExAC: 13:48916860 C / G
• gnomAD v2: 13-48916860-C-G
• gnomAD v3: 13-48342724-C-G
• gnomAD v4: 13-48342724-C-G
• COSMIC: COSM1021
• MyVariant Identifiers: chr13:g.48916860C>G (hg19) ; chr13:g.48342724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342724C>G , CM000675.2:g.48342724C>G	GRCh38
NC_000013.10:g.48916860C>G , CM000675.1:g.48916860C>G	GRCh37
NC_000013.9:g.47814861C>G	NCBI36
NG_009009.1:g.43978C>G , LRG_517:g.43978C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.380+10C>G MANE Select	ENSP00000267163.4:n.380+10C>G
ENST00000650461.1:c.380+10C>G	ENSP00000497193.1:n.380+10C>G
ENST00000267163.4:c.380+10C>G	ENSP00000267163.4:n.380+10C>G
ENST00000467505.5:c.138-17293C>G	ENSP00000434702.1:n.138-17293C>G
ENST00000525036.1:n.542+10C>G
NM_000321.2:c.380+10C>G , LRG_517t1:c.380+10C>G	NP_000312.2:n.380+10C>G
XM_011535171.1:c.119+10C>G	XP_011533473.1:n.119+10C>G
XM_011535171.2:c.119+10C>G	XP_011533473.1:n.119+10C>G
NM_000321.3:c.380+10C>G MANE Select	NP_000312.2:n.380+10C>G