Canonical Allele Identifier: CA388157373

Gene: RB1

Linked Data

• ClinVar Variation Id: 846604
• ClinVar RCV Id: RCV001049945
• dbSNP Id: rs1949506524
• gnomAD v4: 13-48476771-A-G
• MyVariant Identifiers: chr13:g.49050907A>G (hg19) ; chr13:g.48476771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476771A>G , CM000675.2:g.48476771A>G	GRCh38
NC_000013.10:g.49050907A>G , CM000675.1:g.49050907A>G	GRCh37
NC_000013.9:g.47948908A>G	NCBI36
NG_009009.1:g.178025A>G , LRG_517:g.178025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2591A>G MANE Select	ENSP00000267163.4:p.Glu864Gly
ENST00000643064.1:c.194+95328A>G
ENST00000650461.1:c.2591A>G	ENSP00000497193.1:p.Glu864Gly
ENST00000267163.4:c.2591A>G	ENSP00000267163.4:p.Glu864Gly
ENST00000484879.1:n.325A>G
ENST00000531171.5:n.194A>G
NM_000321.2:c.2591A>G , LRG_517t1:c.2591A>G	NP_000312.2:p.Glu864Gly
XM_011535171.1:c.2330A>G	XP_011533473.1:p.Glu777Gly
XM_011535171.2:c.2330A>G	XP_011533473.1:p.Glu777Gly
NM_000321.3:c.2591A>G MANE Select	NP_000312.2:p.Glu864Gly