Canonical Allele Identifier: CA9808318

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32433403G>A , CM000682.2:g.32433403G>A	GRCh38
NC_000020.10:g.31021206G>A , CM000682.1:g.31021206G>A	GRCh37
NC_000020.9:g.30484867G>A	NCBI36
NG_027868.1:g.80060G>A , LRG_630:g.80060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1205G>A MANE Select	ENSP00000364839.4:p.Arg402Gln
ENST00000644168.1:n.747G>A
ENST00000646985.1:c.1022G>A	ENSP00000495053.1:p.Arg341Gln
ENST00000647223.1:n.3044G>A
ENST00000651418.1:c.1205G>A	ENSP00000499150.1:p.Arg402Gln
ENST00000306058.9:c.1190G>A	ENSP00000305119.5:p.Arg397Gln
ENST00000375687.8:c.1205G>A	ENSP00000364839.4:p.Arg402Gln
ENST00000553345.5:n.802G>A
ENST00000613218.4:c.1205G>A	ENSP00000480487.1:p.Arg402Gln
ENST00000620121.4:c.1205G>A	ENSP00000481978.1:p.Arg402Gln
NM_015338.5:c.1205G>A , LRG_630t1:c.1205G>A	NP_056153.2:p.Arg402Gln
XM_006723727.2:c.1202G>A	XP_006723790.1:p.Arg401Gln
XM_006723728.2:c.1175G>A	XP_006723791.1:p.Arg392Gln
XM_006723730.2:c.1121G>A	XP_006723793.1:p.Arg374Gln
XM_006723732.2:c.1022G>A	XP_006723795.1:p.Arg341Gln
XM_006723733.1:c.521G>A	XP_006723796.1:p.Arg174Gln
XM_011528647.1:c.1469G>A	XP_011526949.1:p.Arg490Gln
XM_011528648.1:c.1466G>A	XP_011526950.1:p.Arg489Gln
XM_011528649.1:c.1385G>A	XP_011526951.1:p.Arg462Gln
XM_011528650.1:c.1316G>A	XP_011526952.1:p.Arg439Gln
XM_011528651.1:c.1184G>A	XP_011526953.1:p.Arg395Gln
XM_011528652.1:c.1121G>A	XP_011526954.1:p.Arg374Gln
NM_001363734.1:c.1022G>A	NP_001350663.1:p.Arg341Gln
XM_006723727.3:c.1202G>A	XP_006723790.1:p.Arg401Gln
XM_006723728.3:c.1175G>A	XP_006723791.1:p.Arg392Gln
XM_006723730.4:c.1121G>A	XP_006723793.1:p.Arg374Gln
XM_011528648.3:c.1466G>A	XP_011526950.1:p.Arg489Gln
XM_011528652.2:c.1121G>A	XP_011526954.1:p.Arg374Gln
XM_017027704.1:c.1121G>A	XP_016883193.1:p.Arg374Gln
XM_017027705.1:c.1121G>A	XP_016883194.1:p.Arg374Gln
XM_017027706.1:c.1052G>A	XP_016883195.1:p.Arg351Gln
NM_015338.6:c.1205G>A MANE Select	NP_056153.2:p.Arg402Gln