Canonical Allele Identifier: CA388252578

Gene: RB1

Linked Data

• ClinVar Variation Id: 428727
• ClinVar RCV Id: RCV000492145 ; RCV001290126
• dbSNP Id: rs1131690902
• gnomAD v4: 13-48342715-G-A
• MyVariant Identifiers: chr13:g.48916851G>A (hg19) ; chr13:g.48342715G>A (hg38)
• PubMed: PMID:10671068 ; PMID:22963398

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342715G>A , CM000675.2:g.48342715G>A	GRCh38
NC_000013.10:g.48916851G>A , CM000675.1:g.48916851G>A	GRCh37
NC_000013.9:g.47814852G>A	NCBI36
NG_009009.1:g.43969G>A , LRG_517:g.43969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.380+1G>A MANE Select	ENSP00000267163.4:n.380+1G>A
ENST00000650461.1:c.380+1G>A	ENSP00000497193.1:n.380+1G>A
ENST00000267163.4:c.380+1G>A	ENSP00000267163.4:n.380+1G>A
ENST00000467505.5:c.138-17302G>A	ENSP00000434702.1:n.138-17302G>A
ENST00000525036.1:n.542+1G>A
NM_000321.2:c.380+1G>A , LRG_517t1:c.380+1G>A	NP_000312.2:n.380+1G>A
XM_011535171.1:c.119+1G>A	XP_011533473.1:n.119+1G>A
XM_011535171.2:c.119+1G>A	XP_011533473.1:n.119+1G>A
NM_000321.3:c.380+1G>A MANE Select	NP_000312.2:n.380+1G>A