Canonical Allele Identifier: CA9808359

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32433663C>G , CM000682.2:g.32433663C>G	GRCh38
NC_000020.10:g.31021466C>G , CM000682.1:g.31021466C>G	GRCh37
NC_000020.9:g.30485127C>G	NCBI36
NG_027868.1:g.80320C>G , LRG_630:g.80320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1465C>G MANE Select	ENSP00000364839.4:p.Arg489Gly
ENST00000644168.1:n.1007C>G
ENST00000646985.1:c.1282C>G	ENSP00000495053.1:p.Arg428Gly
ENST00000647223.1:n.3304C>G
ENST00000651418.1:c.1465C>G	ENSP00000499150.1:p.Arg489Gly
ENST00000306058.9:c.1450C>G	ENSP00000305119.5:p.Arg484Gly
ENST00000375687.8:c.1465C>G	ENSP00000364839.4:p.Arg489Gly
ENST00000613218.4:c.1465C>G	ENSP00000480487.1:p.Arg489Gly
ENST00000620121.4:c.1465C>G	ENSP00000481978.1:p.Arg489Gly
NM_015338.5:c.1465C>G , LRG_630t1:c.1465C>G	NP_056153.2:p.Arg489Gly
XM_006723727.2:c.1462C>G	XP_006723790.1:p.Arg488Gly
XM_006723728.2:c.1435C>G	XP_006723791.1:p.Arg479Gly
XM_006723730.2:c.1381C>G	XP_006723793.1:p.Arg461Gly
XM_006723732.2:c.1282C>G	XP_006723795.1:p.Arg428Gly
XM_006723733.1:c.781C>G	XP_006723796.1:p.Arg261Gly
XM_011528647.1:c.1729C>G	XP_011526949.1:p.Arg577Gly
XM_011528648.1:c.1726C>G	XP_011526950.1:p.Arg576Gly
XM_011528649.1:c.1645C>G	XP_011526951.1:p.Arg549Gly
XM_011528650.1:c.1576C>G	XP_011526952.1:p.Arg526Gly
XM_011528651.1:c.1444C>G	XP_011526953.1:p.Arg482Gly
XM_011528652.1:c.1381C>G	XP_011526954.1:p.Arg461Gly
NM_001363734.1:c.1282C>G	NP_001350663.1:p.Arg428Gly
XM_006723727.3:c.1462C>G	XP_006723790.1:p.Arg488Gly
XM_006723728.3:c.1435C>G	XP_006723791.1:p.Arg479Gly
XM_006723730.4:c.1381C>G	XP_006723793.1:p.Arg461Gly
XM_011528648.3:c.1726C>G	XP_011526950.1:p.Arg576Gly
XM_011528652.2:c.1381C>G	XP_011526954.1:p.Arg461Gly
XM_017027704.1:c.1381C>G	XP_016883193.1:p.Arg461Gly
XM_017027705.1:c.1381C>G	XP_016883194.1:p.Arg461Gly
XM_017027706.1:c.1312C>G	XP_016883195.1:p.Arg438Gly
NM_015338.6:c.1465C>G MANE Select	NP_056153.2:p.Arg489Gly