Canonical Allele Identifier: CA039832

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364961G>A , CM000675.2:g.48364961G>A	GRCh38
NC_000013.10:g.48939097G>A , CM000675.1:g.48939097G>A	GRCh37
NC_000013.9:g.47837098G>A	NCBI36
NG_009009.1:g.66215G>A , LRG_517:g.66215G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.929G>A MANE Select	NP_000312.2:p.Gly310Glu
ENST00000267163.6:c.929G>A MANE Select	ENSP00000267163.4:p.Gly310Glu
NM_000321.2:c.929G>A , LRG_517t1:c.929G>A	NP_000312.2:p.Gly310Glu
ENST00000267163.4:c.929G>A	ENSP00000267163.4:p.Gly310Glu
ENST00000650461.1:c.929G>A	ENSP00000497193.1:p.Gly310Glu
XM_011535171.1:c.668G>A	XP_011533473.1:p.Gly223Glu
XM_011535171.2:c.668G>A	XP_011533473.1:p.Gly223Glu
XR_002957522.1:n.137C>T