Canonical Allele Identifier: CA388157613

Gene: RB1

Linked Data

• dbSNP Id: rs2138359598
• COSMIC: COSM5786872 ; COSM5786873
• MyVariant Identifiers: chr13:g.49050966G>A (hg19) ; chr13:g.48476830G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476830G>A , CM000675.2:g.48476830G>A	GRCh38
NC_000013.10:g.49050966G>A , CM000675.1:g.49050966G>A	GRCh37
NC_000013.9:g.47948967G>A	NCBI36
NG_009009.1:g.178084G>A , LRG_517:g.178084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2650G>A MANE Select	ENSP00000267163.4:p.Glu884Lys
ENST00000643064.1:c.194+95387G>A
ENST00000650461.1:c.2650G>A	ENSP00000497193.1:p.Glu884Lys
ENST00000267163.4:c.2650G>A	ENSP00000267163.4:p.Glu884Lys
ENST00000484879.1:n.384G>A
ENST00000531171.5:n.253G>A
NM_000321.2:c.2650G>A , LRG_517t1:c.2650G>A	NP_000312.2:p.Glu884Lys
XM_011535171.1:c.2389G>A	XP_011533473.1:p.Glu797Lys
XM_011535171.2:c.2389G>A	XP_011533473.1:p.Glu797Lys
NM_000321.3:c.2650G>A MANE Select	NP_000312.2:p.Glu884Lys