Canonical Allele Identifier: CA2360293687

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436411G= , CM000682.2:g.32436411G=	GRCh38
NC_000020.10:g.31024214G= , CM000682.1:g.31024214G=	GRCh37
NC_000020.9:g.30487875G=	NCBI36
NG_027868.1:g.83068G= , LRG_630:g.83068G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3699G= MANE Select	ENSP00000364839.4:p.Glu1233=
ENST00000646985.1:c.3516G=	ENSP00000495053.1:p.Glu1172=
ENST00000647223.1:n.6052G=
ENST00000651418.1:c.1869+1830G=	ENSP00000499150.1:n.1869+1830G=
ENST00000306058.9:c.3684G=	ENSP00000305119.5:p.Glu1228=
ENST00000375687.8:c.3699G=	ENSP00000364839.4:p.Glu1233=
ENST00000613218.4:c.3699G=	ENSP00000480487.1:p.Glu1233=
ENST00000620121.4:c.3699G=	ENSP00000481978.1:p.Glu1233=
NM_015338.5:c.3699G= , LRG_630t1:c.3699G=	NP_056153.2:p.Glu1233=
XM_006723727.2:c.3696G=	XP_006723790.1:p.Glu1232=
XM_006723728.2:c.3669G=	XP_006723791.1:p.Glu1223=
XM_006723730.2:c.3615G=	XP_006723793.1:p.Glu1205=
XM_006723732.2:c.3516G=	XP_006723795.1:p.Glu1172=
XM_006723733.1:c.3015G=	XP_006723796.1:p.Glu1005=
XM_011528647.1:c.3963G=	XP_011526949.1:p.Glu1321=
XM_011528648.1:c.3960G=	XP_011526950.1:p.Glu1320=
XM_011528649.1:c.3879G=	XP_011526951.1:p.Glu1293=
XM_011528650.1:c.3810G=	XP_011526952.1:p.Glu1270=
XM_011528651.1:c.3678G=	XP_011526953.1:p.Glu1226=
XM_011528652.1:c.3615G=	XP_011526954.1:p.Glu1205=
NM_001363734.1:c.3516G=	NP_001350663.1:p.Glu1172=
XM_006723727.3:c.3696G=	XP_006723790.1:p.Glu1232=
XM_006723728.3:c.3669G=	XP_006723791.1:p.Glu1223=
XM_006723730.4:c.3615G=	XP_006723793.1:p.Glu1205=
XM_011528648.3:c.3960G=	XP_011526950.1:p.Glu1320=
XM_011528652.2:c.3615G=	XP_011526954.1:p.Glu1205=
XM_017027704.1:c.3615G=	XP_016883193.1:p.Glu1205=
XM_017027705.1:c.3615G=	XP_016883194.1:p.Glu1205=
XM_017027706.1:c.3546G=	XP_016883195.1:p.Glu1182=
NM_015338.6:c.3699G= MANE Select	NP_056153.2:p.Glu1233=