Canonical Allele Identifier: CA2360293630

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436288G= , CM000682.2:g.32436288G=	GRCh38
NC_000020.10:g.31024091G= , CM000682.1:g.31024091G=	GRCh37
NC_000020.9:g.30487752G=	NCBI36
NG_027868.1:g.82945G= , LRG_630:g.82945G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3576G= MANE Select	ENSP00000364839.4:p.Glu1192=
ENST00000646985.1:c.3393G=	ENSP00000495053.1:p.Glu1131=
ENST00000647223.1:n.5929G=
ENST00000651418.1:c.1869+1707G=	ENSP00000499150.1:n.1869+1707G=
ENST00000306058.9:c.3561G=	ENSP00000305119.5:p.Glu1187=
ENST00000375687.8:c.3576G=	ENSP00000364839.4:p.Glu1192=
ENST00000613218.4:c.3576G=	ENSP00000480487.1:p.Glu1192=
ENST00000620121.4:c.3576G=	ENSP00000481978.1:p.Glu1192=
NM_015338.5:c.3576G= , LRG_630t1:c.3576G=	NP_056153.2:p.Glu1192=
XM_006723727.2:c.3573G=	XP_006723790.1:p.Glu1191=
XM_006723728.2:c.3546G=	XP_006723791.1:p.Glu1182=
XM_006723730.2:c.3492G=	XP_006723793.1:p.Glu1164=
XM_006723732.2:c.3393G=	XP_006723795.1:p.Glu1131=
XM_006723733.1:c.2892G=	XP_006723796.1:p.Glu964=
XM_011528647.1:c.3840G=	XP_011526949.1:p.Glu1280=
XM_011528648.1:c.3837G=	XP_011526950.1:p.Glu1279=
XM_011528649.1:c.3756G=	XP_011526951.1:p.Glu1252=
XM_011528650.1:c.3687G=	XP_011526952.1:p.Glu1229=
XM_011528651.1:c.3555G=	XP_011526953.1:p.Glu1185=
XM_011528652.1:c.3492G=	XP_011526954.1:p.Glu1164=
NM_001363734.1:c.3393G=	NP_001350663.1:p.Glu1131=
XM_006723727.3:c.3573G=	XP_006723790.1:p.Glu1191=
XM_006723728.3:c.3546G=	XP_006723791.1:p.Glu1182=
XM_006723730.4:c.3492G=	XP_006723793.1:p.Glu1164=
XM_011528648.3:c.3837G=	XP_011526950.1:p.Glu1279=
XM_011528652.2:c.3492G=	XP_011526954.1:p.Glu1164=
XM_017027704.1:c.3492G=	XP_016883193.1:p.Glu1164=
XM_017027705.1:c.3492G=	XP_016883194.1:p.Glu1164=
XM_017027706.1:c.3423G=	XP_016883195.1:p.Glu1141=
NM_015338.6:c.3576G= MANE Select	NP_056153.2:p.Glu1192=