Canonical Allele Identifier: CA408835174

Gene: RBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37066884C>A , CM000682.2:g.37066884C>A	GRCh38
NC_000020.10:g.35695287C>A , CM000682.1:g.35695287C>A	GRCh37
NC_000020.9:g.35128701C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373664.8:c.686G>T MANE Select	ENSP00000362768.3:p.Gly229Val
ENST00000344359.7:c.686G>T	ENSP00000343646.3:p.Gly229Val
ENST00000373664.7:c.686G>T	ENSP00000362768.3:p.Gly229Val
ENST00000525052.1:c.100G>T
NM_002895.3:c.686G>T	NP_002886.2:p.Gly229Val
NM_183404.2:c.686G>T	NP_899662.1:p.Gly229Val
XM_006723842.1:c.170G>T	XP_006723905.1:p.Gly57Val
XM_011528955.1:c.686G>T	XP_011527257.1:p.Gly229Val
XM_011528956.1:c.449G>T	XP_011527258.1:p.Gly150Val
XM_011528957.1:c.374G>T	XP_011527259.1:p.Gly125Val
XM_011528958.1:c.686G>T	XP_011527260.1:p.Gly229Val
XM_011528959.1:c.-734G>T	XP_011527261.1:n.-734G>T
NM_001323281.1:c.-734G>T	NP_001310210.1:n.-734G>T
NM_001323282.1:c.-734G>T	NP_001310211.1:n.-734G>T
NM_002895.4:c.686G>T	NP_002886.2:p.Gly229Val
NM_183404.3:c.686G>T	NP_899662.1:p.Gly229Val
XM_006723842.3:c.170G>T	XP_006723905.1:p.Gly57Val
XM_017027992.1:c.374G>T	XP_016883481.1:p.Gly125Val
XM_024451956.1:c.797G>T	XP_024307724.1:p.Gly266Val
XM_024451957.1:c.797G>T	XP_024307725.1:p.Gly266Val
XM_024451958.1:c.797G>T	XP_024307726.1:p.Gly266Val
NM_001323281.2:c.-734G>T	NP_001310210.1:n.-734G>T
NM_001323282.2:c.-734G>T	NP_001310211.1:n.-734G>T
NM_002895.5:c.686G>T MANE Select	NP_002886.2:p.Gly229Val
NM_183404.4:c.686G>T	NP_899662.1:p.Gly229Val