Canonical Allele Identifier: CA408846518

Gene: RBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37095816G>A , CM000682.2:g.37095816G>A	GRCh38
NC_000020.10:g.35724219G>A , CM000682.1:g.35724219G>A	GRCh37
NC_000020.9:g.35157633G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002895.5:c.113C>T MANE Select	NP_002886.2:p.Ala38Val
ENST00000373664.8:c.113C>T MANE Select	ENSP00000362768.3:p.Ala38Val
NM_001323281.1:c.-1242C>T	NP_001310210.1:n.-1242C>T
NM_001323281.2:c.-1242C>T	NP_001310210.1:n.-1242C>T
NM_001323282.1:c.-1307C>T	NP_001310211.1:n.-1307C>T
NM_001323282.2:c.-1307C>T	NP_001310211.1:n.-1307C>T
NM_002895.3:c.113C>T	NP_002886.2:p.Ala38Val
NM_002895.4:c.113C>T	NP_002886.2:p.Ala38Val
NM_183404.2:c.113C>T	NP_899662.1:p.Ala38Val
NM_183404.3:c.113C>T	NP_899662.1:p.Ala38Val
NM_183404.4:c.113C>T	NP_899662.1:p.Ala38Val
ENST00000344359.7:c.113C>T	ENSP00000343646.3:p.Ala38Val
ENST00000373664.7:c.113C>T	ENSP00000362768.3:p.Ala38Val
ENST00000527999.1:c.113C>T	ENSP00000437240.1:p.Ala38Val
XM_006723842.1:c.-339C>T	XP_006723905.1:n.-339C>T
XM_006723842.3:c.-339C>T	XP_006723905.1:n.-339C>T
XM_011528955.1:c.113C>T	XP_011527257.1:p.Ala38Val
XM_011528956.1:c.-264C>T	XP_011527258.1:n.-264C>T
XM_011528958.1:c.113C>T	XP_011527260.1:p.Ala38Val
XM_011528959.1:c.-1307C>T	XP_011527261.1:n.-1307C>T
XM_017027992.1:c.-342C>T	XP_016883481.1:n.-342C>T
XM_024451956.1:c.113C>T	XP_024307724.1:p.Ala38Val
XM_024451957.1:c.113C>T	XP_024307725.1:p.Ala38Val
XM_024451958.1:c.113C>T	XP_024307726.1:p.Ala38Val