Canonical Allele Identifier: CA408826628

Gene: RBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37056224T>C , CM000682.2:g.37056224T>C	GRCh38
NC_000020.10:g.35684627T>C , CM000682.1:g.35684627T>C	GRCh37
NC_000020.9:g.35118041T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373664.8:c.1285A>G MANE Select	ENSP00000362768.3:p.Lys429Glu
ENST00000344359.7:c.1285A>G	ENSP00000343646.3:p.Lys429Glu
ENST00000373664.7:c.1285A>G	ENSP00000362768.3:p.Lys429Glu
ENST00000525052.1:c.699A>G
NM_002895.3:c.1285A>G	NP_002886.2:p.Lys429Glu
NM_183404.2:c.1285A>G	NP_899662.1:p.Lys429Glu
XM_006723842.1:c.769A>G	XP_006723905.1:p.Lys257Glu
XM_011528955.1:c.1285A>G	XP_011527257.1:p.Lys429Glu
XM_011528956.1:c.1048A>G	XP_011527258.1:p.Lys350Glu
XM_011528957.1:c.973A>G	XP_011527259.1:p.Lys325Glu
XM_011528958.1:c.1285A>G	XP_011527260.1:p.Lys429Glu
XM_011528959.1:c.4A>G	XP_011527261.1:p.Lys2Glu
NM_001323281.1:c.4A>G	NP_001310210.1:p.Lys2Glu
NM_001323282.1:c.4A>G	NP_001310211.1:p.Lys2Glu
NM_002895.4:c.1285A>G	NP_002886.2:p.Lys429Glu
NM_183404.3:c.1285A>G	NP_899662.1:p.Lys429Glu
XM_006723842.3:c.769A>G	XP_006723905.1:p.Lys257Glu
XM_017027992.1:c.973A>G	XP_016883481.1:p.Lys325Glu
XM_024451956.1:c.1396A>G	XP_024307724.1:p.Lys466Glu
XM_024451957.1:c.1396A>G	XP_024307725.1:p.Lys466Glu
XM_024451958.1:c.1396A>G	XP_024307726.1:p.Lys466Glu
NM_001323281.2:c.4A>G	NP_001310210.1:p.Lys2Glu
NM_001323282.2:c.4A>G	NP_001310211.1:p.Lys2Glu
NM_002895.5:c.1285A>G MANE Select	NP_002886.2:p.Lys429Glu
NM_183404.4:c.1285A>G	NP_899662.1:p.Lys429Glu