Canonical Allele Identifier: CA388157657

Gene: RB1

Linked Data

• ClinVar Variation Id: 577272
• ClinVar RCV Id: RCV000699975
• dbSNP Id: rs1566241021
• gnomAD v4: 13-48476840-G-A
• MyVariant Identifiers: chr13:g.49050976G>A (hg19) ; chr13:g.48476840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476840G>A , CM000675.2:g.48476840G>A	GRCh38
NC_000013.10:g.49050976G>A , CM000675.1:g.49050976G>A	GRCh37
NC_000013.9:g.47948977G>A	NCBI36
NG_009009.1:g.178094G>A , LRG_517:g.178094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2660G>A MANE Select	ENSP00000267163.4:p.Gly887Glu
ENST00000643064.1:c.194+95397G>A
ENST00000650461.1:c.2660G>A	ENSP00000497193.1:p.Gly887Glu
ENST00000267163.4:c.2660G>A	ENSP00000267163.4:p.Gly887Glu
ENST00000484879.1:n.394G>A
ENST00000531171.5:n.263G>A
NM_000321.2:c.2660G>A , LRG_517t1:c.2660G>A	NP_000312.2:p.Gly887Glu
XM_011535171.1:c.2399G>A	XP_011533473.1:p.Gly800Glu
XM_011535171.2:c.2399G>A	XP_011533473.1:p.Gly800Glu
NM_000321.3:c.2660G>A MANE Select	NP_000312.2:p.Gly887Glu