Canonical Allele Identifier: CA9845162

Gene: RBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37032835A>C , CM000682.2:g.37032835A>C	GRCh38
NC_000020.10:g.35661238A>C , CM000682.1:g.35661238A>C	GRCh37
NC_000020.9:g.35094652A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373664.8:c.2212T>G MANE Select	ENSP00000362768.3:p.Ser738Ala
ENST00000344359.7:c.2212T>G	ENSP00000343646.3:p.Ser738Ala
ENST00000373664.7:c.2212T>G	ENSP00000362768.3:p.Ser738Ala
NM_002895.3:c.2212T>G	NP_002886.2:p.Ser738Ala
NM_183404.2:c.2212T>G	NP_899662.1:p.Ser738Ala
XM_006723842.1:c.1696T>G	XP_006723905.1:p.Ser566Ala
XM_011528955.1:c.2212T>G	XP_011527257.1:p.Ser738Ala
XM_011528956.1:c.1975T>G	XP_011527258.1:p.Ser659Ala
XM_011528957.1:c.1900T>G	XP_011527259.1:p.Ser634Ala
XM_011528958.1:c.2170+2407T>G	XP_011527260.1:n.2170+2407T>G
XM_011528959.1:c.931T>G	XP_011527261.1:p.Ser311Ala
NM_001323281.1:c.931T>G	NP_001310210.1:p.Ser311Ala
NM_001323282.1:c.931T>G	NP_001310211.1:p.Ser311Ala
NM_002895.4:c.2212T>G	NP_002886.2:p.Ser738Ala
NM_183404.3:c.2212T>G	NP_899662.1:p.Ser738Ala
XM_006723842.3:c.1696T>G	XP_006723905.1:p.Ser566Ala
XM_017027992.1:c.1900T>G	XP_016883481.1:p.Ser634Ala
XM_024451956.1:c.2323T>G	XP_024307724.1:p.Ser775Ala
XM_024451957.1:c.2323T>G	XP_024307725.1:p.Ser775Ala
XM_024451958.1:c.2281+2407T>G	XP_024307726.1:n.2281+2407T>G
NM_001323281.2:c.931T>G	NP_001310210.1:p.Ser311Ala
NM_001323282.2:c.931T>G	NP_001310211.1:p.Ser311Ala
NM_002895.5:c.2212T>G MANE Select	NP_002886.2:p.Ser738Ala
NM_183404.4:c.2212T>G	NP_899662.1:p.Ser738Ala