Canonical Allele Identifier: CA9845073

Gene: RBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37020730C>T , CM000682.2:g.37020730C>T	GRCh38
NC_000020.10:g.35649133C>T , CM000682.1:g.35649133C>T	GRCh37
NC_000020.9:g.35082547C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373664.8:c.2560G>A MANE Select	ENSP00000362768.3:p.Val854Ile
ENST00000344359.7:c.2560G>A	ENSP00000343646.3:p.Val854Ile
ENST00000373664.7:c.2560G>A	ENSP00000362768.3:p.Val854Ile
NM_002895.3:c.2560G>A	NP_002886.2:p.Val854Ile
NM_183404.2:c.2560G>A	NP_899662.1:p.Val854Ile
XM_006723842.1:c.2044G>A	XP_006723905.1:p.Val682Ile
XM_011528955.1:c.2560G>A	XP_011527257.1:p.Val854Ile
XM_011528956.1:c.2323G>A	XP_011527258.1:p.Val775Ile
XM_011528957.1:c.2248G>A	XP_011527259.1:p.Val750Ile
XM_011528959.1:c.1279G>A	XP_011527261.1:p.Val427Ile
NM_001323281.1:c.1279G>A	NP_001310210.1:p.Val427Ile
NM_001323282.1:c.1279G>A	NP_001310211.1:p.Val427Ile
NM_002895.4:c.2560G>A	NP_002886.2:p.Val854Ile
NM_183404.3:c.2560G>A	NP_899662.1:p.Val854Ile
XM_006723842.3:c.2044G>A	XP_006723905.1:p.Val682Ile
XM_017027992.1:c.2248G>A	XP_016883481.1:p.Val750Ile
XM_024451956.1:c.2671G>A	XP_024307724.1:p.Val891Ile
XM_024451957.1:c.2671G>A	XP_024307725.1:p.Val891Ile
NM_001323281.2:c.1279G>A	NP_001310210.1:p.Val427Ile
NM_001323282.2:c.1279G>A	NP_001310211.1:p.Val427Ile
NM_002895.5:c.2560G>A MANE Select	NP_002886.2:p.Val854Ile
NM_183404.4:c.2560G>A	NP_899662.1:p.Val854Ile