Canonical Allele Identifier: CA2360293794

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436626T= , CM000682.2:g.32436626T=	GRCh38
NC_000020.10:g.31024429T= , CM000682.1:g.31024429T=	GRCh37
NC_000020.9:g.30488090T=	NCBI36
NG_027868.1:g.83283T= , LRG_630:g.83283T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3914T= MANE Select	ENSP00000364839.4:p.Phe1305=
ENST00000646985.1:c.3731T=	ENSP00000495053.1:p.Phe1244=
ENST00000647223.1:n.6267T=
ENST00000651418.1:c.1870-1804T=	ENSP00000499150.1:n.1870-1804T=
ENST00000306058.9:c.3899T=	ENSP00000305119.5:p.Phe1300=
ENST00000375687.8:c.3914T=	ENSP00000364839.4:p.Phe1305=
ENST00000613218.4:c.3914T=	ENSP00000480487.1:p.Phe1305=
ENST00000620121.4:c.3914T=	ENSP00000481978.1:p.Phe1305=
NM_015338.5:c.3914T= , LRG_630t1:c.3914T=	NP_056153.2:p.Phe1305=
XM_006723727.2:c.3911T=	XP_006723790.1:p.Phe1304=
XM_006723728.2:c.3884T=	XP_006723791.1:p.Phe1295=
XM_006723730.2:c.3830T=	XP_006723793.1:p.Phe1277=
XM_006723732.2:c.3731T=	XP_006723795.1:p.Phe1244=
XM_006723733.1:c.3230T=	XP_006723796.1:p.Phe1077=
XM_011528647.1:c.4178T=	XP_011526949.1:p.Phe1393=
XM_011528648.1:c.4175T=	XP_011526950.1:p.Phe1392=
XM_011528649.1:c.4094T=	XP_011526951.1:p.Phe1365=
XM_011528650.1:c.4025T=	XP_011526952.1:p.Phe1342=
XM_011528651.1:c.3893T=	XP_011526953.1:p.Phe1298=
XM_011528652.1:c.3830T=	XP_011526954.1:p.Phe1277=
NM_001363734.1:c.3731T=	NP_001350663.1:p.Phe1244=
XM_006723727.3:c.3911T=	XP_006723790.1:p.Phe1304=
XM_006723728.3:c.3884T=	XP_006723791.1:p.Phe1295=
XM_006723730.4:c.3830T=	XP_006723793.1:p.Phe1277=
XM_011528648.3:c.4175T=	XP_011526950.1:p.Phe1392=
XM_011528652.2:c.3830T=	XP_011526954.1:p.Phe1277=
XM_017027704.1:c.3830T=	XP_016883193.1:p.Phe1277=
XM_017027705.1:c.3830T=	XP_016883194.1:p.Phe1277=
XM_017027706.1:c.3761T=	XP_016883195.1:p.Phe1254=
NM_015338.6:c.3914T= MANE Select	NP_056153.2:p.Phe1305=