Canonical Allele Identifier: CA314301278

Gene: RBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37040264C>T , CM000682.2:g.37040264C>T	GRCh38
NC_000020.10:g.35668667C>T , CM000682.1:g.35668667C>T	GRCh37
NC_000020.9:g.35102081C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373664.8:c.1792G>A MANE Select	ENSP00000362768.3:p.Glu598Lys
ENST00000344359.7:c.1792G>A	ENSP00000343646.3:p.Glu598Lys
ENST00000373664.7:c.1792G>A	ENSP00000362768.3:p.Glu598Lys
NM_002895.3:c.1792G>A	NP_002886.2:p.Glu598Lys
NM_183404.2:c.1792G>A	NP_899662.1:p.Glu598Lys
XM_006723842.1:c.1276G>A	XP_006723905.1:p.Glu426Lys
XM_011528955.1:c.1792G>A	XP_011527257.1:p.Glu598Lys
XM_011528956.1:c.1555G>A	XP_011527258.1:p.Glu519Lys
XM_011528957.1:c.1480G>A	XP_011527259.1:p.Glu494Lys
XM_011528958.1:c.1792G>A	XP_011527260.1:p.Glu598Lys
XM_011528959.1:c.511G>A	XP_011527261.1:p.Glu171Lys
NM_001323281.1:c.511G>A	NP_001310210.1:p.Glu171Lys
NM_001323282.1:c.511G>A	NP_001310211.1:p.Glu171Lys
NM_002895.4:c.1792G>A	NP_002886.2:p.Glu598Lys
NM_183404.3:c.1792G>A	NP_899662.1:p.Glu598Lys
XM_006723842.3:c.1276G>A	XP_006723905.1:p.Glu426Lys
XM_017027992.1:c.1480G>A	XP_016883481.1:p.Glu494Lys
XM_024451956.1:c.1903G>A	XP_024307724.1:p.Glu635Lys
XM_024451957.1:c.1903G>A	XP_024307725.1:p.Glu635Lys
XM_024451958.1:c.1903G>A	XP_024307726.1:p.Glu635Lys
NM_001323281.2:c.511G>A	NP_001310210.1:p.Glu171Lys
NM_001323282.2:c.511G>A	NP_001310211.1:p.Glu171Lys
NM_002895.5:c.1792G>A MANE Select	NP_002886.2:p.Glu598Lys
NM_183404.4:c.1792G>A	NP_899662.1:p.Glu598Lys