Canonical Allele Identifier: CA388157609

Gene: RB1

Linked Data

• dbSNP Id: rs2138359591
• MyVariant Identifiers: chr13:g.49050965T>A (hg19) ; chr13:g.48476829T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476829T>A , CM000675.2:g.48476829T>A	GRCh38
NC_000013.10:g.49050965T>A , CM000675.1:g.49050965T>A	GRCh37
NC_000013.9:g.47948966T>A	NCBI36
NG_009009.1:g.178083T>A , LRG_517:g.178083T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2649T>A MANE Select	ENSP00000267163.4:p.Asp883Glu
ENST00000643064.1:c.194+95386T>A
ENST00000650461.1:c.2649T>A	ENSP00000497193.1:p.Asp883Glu
ENST00000267163.4:c.2649T>A	ENSP00000267163.4:p.Asp883Glu
ENST00000484879.1:n.383T>A
ENST00000531171.5:n.252T>A
NM_000321.2:c.2649T>A , LRG_517t1:c.2649T>A	NP_000312.2:p.Asp883Glu
XM_011535171.1:c.2388T>A	XP_011533473.1:p.Asp796Glu
XM_011535171.2:c.2388T>A	XP_011533473.1:p.Asp796Glu
NM_000321.3:c.2649T>A MANE Select	NP_000312.2:p.Asp883Glu