Canonical Allele Identifier: CA2360293517

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436069G= , CM000682.2:g.32436069G=	GRCh38
NC_000020.10:g.31023872G= , CM000682.1:g.31023872G=	GRCh37
NC_000020.9:g.30487533G=	NCBI36
NG_027868.1:g.82726G= , LRG_630:g.82726G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3357G= MANE Select	ENSP00000364839.4:p.Glu1119=
ENST00000646985.1:c.3174G=	ENSP00000495053.1:p.Glu1058=
ENST00000647223.1:n.5710G=
ENST00000651418.1:c.1869+1488G=	ENSP00000499150.1:n.1869+1488G=
ENST00000306058.9:c.3342G=	ENSP00000305119.5:p.Glu1114=
ENST00000375687.8:c.3357G=	ENSP00000364839.4:p.Glu1119=
ENST00000613218.4:c.3357G=	ENSP00000480487.1:p.Glu1119=
ENST00000620121.4:c.3357G=	ENSP00000481978.1:p.Glu1119=
NM_015338.5:c.3357G= , LRG_630t1:c.3357G=	NP_056153.2:p.Glu1119=
XM_006723727.2:c.3354G=	XP_006723790.1:p.Glu1118=
XM_006723728.2:c.3327G=	XP_006723791.1:p.Glu1109=
XM_006723730.2:c.3273G=	XP_006723793.1:p.Glu1091=
XM_006723732.2:c.3174G=	XP_006723795.1:p.Glu1058=
XM_006723733.1:c.2673G=	XP_006723796.1:p.Glu891=
XM_011528647.1:c.3621G=	XP_011526949.1:p.Glu1207=
XM_011528648.1:c.3618G=	XP_011526950.1:p.Glu1206=
XM_011528649.1:c.3537G=	XP_011526951.1:p.Glu1179=
XM_011528650.1:c.3468G=	XP_011526952.1:p.Glu1156=
XM_011528651.1:c.3336G=	XP_011526953.1:p.Glu1112=
XM_011528652.1:c.3273G=	XP_011526954.1:p.Glu1091=
NM_001363734.1:c.3174G=	NP_001350663.1:p.Glu1058=
XM_006723727.3:c.3354G=	XP_006723790.1:p.Glu1118=
XM_006723728.3:c.3327G=	XP_006723791.1:p.Glu1109=
XM_006723730.4:c.3273G=	XP_006723793.1:p.Glu1091=
XM_011528648.3:c.3618G=	XP_011526950.1:p.Glu1206=
XM_011528652.2:c.3273G=	XP_011526954.1:p.Glu1091=
XM_017027704.1:c.3273G=	XP_016883193.1:p.Glu1091=
XM_017027705.1:c.3273G=	XP_016883194.1:p.Glu1091=
XM_017027706.1:c.3204G=	XP_016883195.1:p.Glu1068=
NM_015338.6:c.3357G= MANE Select	NP_056153.2:p.Glu1119=