Canonical Allele Identifier: CA9808020

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32369117G>A , CM000682.2:g.32369117G>A	GRCh38
NC_000020.10:g.30956920G>A , CM000682.1:g.30956920G>A	GRCh37
NC_000020.9:g.30420581G>A	NCBI36
NG_027868.1:g.15774G>A , LRG_630:g.15774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.246G>A MANE Select	ENSP00000364839.4:p.Thr82=
ENST00000470145.3:n.189G>A
ENST00000497249.6:c.216G>A	ENSP00000451216.2:p.Thr72=
ENST00000642676.1:c.162G>A	ENSP00000496042.1:p.Thr54=
ENST00000643168.1:c.162G>A	ENSP00000495003.1:p.Thr54=
ENST00000644587.1:c.243G>A	ENSP00000494813.1:p.Thr81=
ENST00000645035.1:c.216G>A	ENSP00000495495.1:p.Thr72=
ENST00000645337.1:c.246G>A	ENSP00000494077.1:p.Thr82=
ENST00000645688.1:c.162G>A	ENSP00000495488.1:p.Thr54=
ENST00000646367.1:c.246G>A	ENSP00000493987.1:p.Thr82=
ENST00000646985.1:c.216G>A	ENSP00000495053.1:p.Thr72=
ENST00000649901.1:c.162G>A	ENSP00000497010.1:p.Thr54=
ENST00000651418.1:c.246G>A	ENSP00000499150.1:p.Thr82=
ENST00000306058.9:c.231G>A	ENSP00000305119.5:p.Thr77=
ENST00000375687.8:c.246G>A	ENSP00000364839.4:p.Thr82=
ENST00000375689.5:c.234G>A	ENSP00000364841.1:p.Thr78=
ENST00000470145.2:n.189G>A
ENST00000497249.5:c.211G>A
ENST00000542461.5:c.246G>A	ENSP00000438654.2:p.Thr82=
ENST00000555343.2:c.162G>A	ENSP00000480361.1:p.Thr54=
ENST00000613218.4:c.246G>A	ENSP00000480487.1:p.Thr82=
ENST00000620121.4:c.246G>A	ENSP00000481978.1:p.Thr82=
NM_001164603.1:c.246G>A , LRG_630t2:c.246G>A	NP_001158075.1:p.Thr82=
NM_015338.5:c.246G>A , LRG_630t1:c.246G>A	NP_056153.2:p.Thr82=
XM_006723727.2:c.243G>A	XP_006723790.1:p.Thr81=
XM_006723728.2:c.216G>A	XP_006723791.1:p.Thr72=
XM_006723730.2:c.162G>A	XP_006723793.1:p.Thr54=
XM_006723732.2:c.216G>A	XP_006723795.1:p.Thr72=
XM_011528647.1:c.510G>A	XP_011526949.1:p.Thr170=
XM_011528648.1:c.507G>A	XP_011526950.1:p.Thr169=
XM_011528649.1:c.426G>A	XP_011526951.1:p.Thr142=
XM_011528650.1:c.510G>A	XP_011526952.1:p.Thr170=
XM_011528651.1:c.225G>A	XP_011526953.1:p.Thr75=
XM_011528652.1:c.162G>A	XP_011526954.1:p.Thr54=
XR_936675.1:n.690-3554C>T
NM_001363734.1:c.216G>A	NP_001350663.1:p.Thr72=
XM_006723727.3:c.243G>A	XP_006723790.1:p.Thr81=
XM_006723728.3:c.216G>A	XP_006723791.1:p.Thr72=
XM_006723730.4:c.162G>A	XP_006723793.1:p.Thr54=
XM_011528648.3:c.507G>A	XP_011526950.1:p.Thr169=
XM_011528652.2:c.162G>A	XP_011526954.1:p.Thr54=
XM_017027704.1:c.162G>A	XP_016883193.1:p.Thr54=
XM_017027705.1:c.162G>A	XP_016883194.1:p.Thr54=
XM_017027706.1:c.246G>A	XP_016883195.1:p.Thr82=
NM_015338.6:c.246G>A MANE Select	NP_056153.2:p.Thr82=