Canonical Allele Identifier: CA388168217

Gene: RB1

Linked Data

• dbSNP Id: rs2138358957
• gnomAD v4: 13-48476717-A-G
• MyVariant Identifiers: chr13:g.49050853A>G (hg19) ; chr13:g.48476717A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476717A>G , CM000675.2:g.48476717A>G	GRCh38
NC_000013.10:g.49050853A>G , CM000675.1:g.49050853A>G	GRCh37
NC_000013.9:g.47948854A>G	NCBI36
NG_009009.1:g.177971A>G , LRG_517:g.177971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2537A>G MANE Select	ENSP00000267163.4:p.Gln846Arg
ENST00000643064.1:c.194+95274A>G
ENST00000650461.1:c.2537A>G	ENSP00000497193.1:p.Gln846Arg
ENST00000267163.4:c.2537A>G	ENSP00000267163.4:p.Gln846Arg
ENST00000484879.1:n.271A>G
ENST00000531171.5:n.140A>G
NM_000321.2:c.2537A>G , LRG_517t1:c.2537A>G	NP_000312.2:p.Gln846Arg
XM_011535171.1:c.2276A>G	XP_011533473.1:p.Gln759Arg
XM_011535171.2:c.2276A>G	XP_011533473.1:p.Gln759Arg
NM_000321.3:c.2537A>G MANE Select	NP_000312.2:p.Gln846Arg