Canonical Allele Identifier: CA2360289963

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428228C= , CM000682.2:g.32428228C=	GRCh38
NC_000020.10:g.31016031C= , CM000682.1:g.31016031C=	GRCh37
NC_000020.9:g.30479692C=	NCBI36
NG_027868.1:g.74885C= , LRG_630:g.74885C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.353C= MANE Select	ENSP00000364839.4:p.Thr118=
ENST00000470145.3:n.296C=
ENST00000643168.1:c.269C=	ENSP00000495003.1:p.Thr90=
ENST00000644060.1:n.1157C=
ENST00000644587.1:c.*192C=	ENSP00000494813.1:n.*192C=
ENST00000644615.1:n.57C=
ENST00000645514.1:n.101C=
ENST00000646985.1:c.323C=	ENSP00000495053.1:p.Thr108=
ENST00000651418.1:c.353C=	ENSP00000499150.1:p.Thr118=
ENST00000306058.9:c.338C=	ENSP00000305119.5:p.Thr113=
ENST00000375687.8:c.353C=	ENSP00000364839.4:p.Thr118=
ENST00000470145.2:n.296C=
ENST00000613218.4:c.353C=	ENSP00000480487.1:p.Thr118=
ENST00000620121.4:c.353C=	ENSP00000481978.1:p.Thr118=
NM_015338.5:c.353C= , LRG_630t1:c.353C=	NP_056153.2:p.Thr118=
XM_006723727.2:c.350C=	XP_006723790.1:p.Thr117=
XM_006723728.2:c.323C=	XP_006723791.1:p.Thr108=
XM_006723730.2:c.269C=	XP_006723793.1:p.Thr90=
XM_006723732.2:c.323C=	XP_006723795.1:p.Thr108=
XM_011528647.1:c.617C=	XP_011526949.1:p.Thr206=
XM_011528648.1:c.614C=	XP_011526950.1:p.Thr205=
XM_011528649.1:c.533C=	XP_011526951.1:p.Thr178=
XM_011528650.1:c.617C=	XP_011526952.1:p.Thr206=
XM_011528651.1:c.332C=	XP_011526953.1:p.Thr111=
XM_011528652.1:c.269C=	XP_011526954.1:p.Thr90=
NM_001363734.1:c.323C=	NP_001350663.1:p.Thr108=
XM_006723727.3:c.350C=	XP_006723790.1:p.Thr117=
XM_006723728.3:c.323C=	XP_006723791.1:p.Thr108=
XM_006723730.4:c.269C=	XP_006723793.1:p.Thr90=
XM_011528648.3:c.614C=	XP_011526950.1:p.Thr205=
XM_011528652.2:c.269C=	XP_011526954.1:p.Thr90=
XM_017027704.1:c.269C=	XP_016883193.1:p.Thr90=
XM_017027705.1:c.269C=	XP_016883194.1:p.Thr90=
XM_017027706.1:c.353C=	XP_016883195.1:p.Thr118=
NM_015338.6:c.353C= MANE Select	NP_056153.2:p.Thr118=