Canonical Allele Identifier: CA2360293628

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436285T= , CM000682.2:g.32436285T=	GRCh38
NC_000020.10:g.31024088T= , CM000682.1:g.31024088T=	GRCh37
NC_000020.9:g.30487749T=	NCBI36
NG_027868.1:g.82942T= , LRG_630:g.82942T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3573T= MANE Select	ENSP00000364839.4:p.Ile1191=
ENST00000646985.1:c.3390T=	ENSP00000495053.1:p.Ile1130=
ENST00000647223.1:n.5926T=
ENST00000651418.1:c.1869+1704T=	ENSP00000499150.1:n.1869+1704T=
ENST00000306058.9:c.3558T=	ENSP00000305119.5:p.Ile1186=
ENST00000375687.8:c.3573T=	ENSP00000364839.4:p.Ile1191=
ENST00000613218.4:c.3573T=	ENSP00000480487.1:p.Ile1191=
ENST00000620121.4:c.3573T=	ENSP00000481978.1:p.Ile1191=
NM_015338.5:c.3573T= , LRG_630t1:c.3573T=	NP_056153.2:p.Ile1191=
XM_006723727.2:c.3570T=	XP_006723790.1:p.Ile1190=
XM_006723728.2:c.3543T=	XP_006723791.1:p.Ile1181=
XM_006723730.2:c.3489T=	XP_006723793.1:p.Ile1163=
XM_006723732.2:c.3390T=	XP_006723795.1:p.Ile1130=
XM_006723733.1:c.2889T=	XP_006723796.1:p.Ile963=
XM_011528647.1:c.3837T=	XP_011526949.1:p.Ile1279=
XM_011528648.1:c.3834T=	XP_011526950.1:p.Ile1278=
XM_011528649.1:c.3753T=	XP_011526951.1:p.Ile1251=
XM_011528650.1:c.3684T=	XP_011526952.1:p.Ile1228=
XM_011528651.1:c.3552T=	XP_011526953.1:p.Ile1184=
XM_011528652.1:c.3489T=	XP_011526954.1:p.Ile1163=
NM_001363734.1:c.3390T=	NP_001350663.1:p.Ile1130=
XM_006723727.3:c.3570T=	XP_006723790.1:p.Ile1190=
XM_006723728.3:c.3543T=	XP_006723791.1:p.Ile1181=
XM_006723730.4:c.3489T=	XP_006723793.1:p.Ile1163=
XM_011528648.3:c.3834T=	XP_011526950.1:p.Ile1278=
XM_011528652.2:c.3489T=	XP_011526954.1:p.Ile1163=
XM_017027704.1:c.3489T=	XP_016883193.1:p.Ile1163=
XM_017027705.1:c.3489T=	XP_016883194.1:p.Ile1163=
XM_017027706.1:c.3420T=	XP_016883195.1:p.Ile1140=
NM_015338.6:c.3573T= MANE Select	NP_056153.2:p.Ile1191=