Canonical Allele Identifier: CA2360293683

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436400G= , CM000682.2:g.32436400G=	GRCh38
NC_000020.10:g.31024203G= , CM000682.1:g.31024203G=	GRCh37
NC_000020.9:g.30487864G=	NCBI36
NG_027868.1:g.83057G= , LRG_630:g.83057G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3688G= MANE Select	ENSP00000364839.4:p.Asp1230=
ENST00000646985.1:c.3505G=	ENSP00000495053.1:p.Asp1169=
ENST00000647223.1:n.6041G=
ENST00000651418.1:c.1869+1819G=	ENSP00000499150.1:n.1869+1819G=
ENST00000306058.9:c.3673G=	ENSP00000305119.5:p.Asp1225=
ENST00000375687.8:c.3688G=	ENSP00000364839.4:p.Asp1230=
ENST00000613218.4:c.3688G=	ENSP00000480487.1:p.Asp1230=
ENST00000620121.4:c.3688G=	ENSP00000481978.1:p.Asp1230=
NM_015338.5:c.3688G= , LRG_630t1:c.3688G=	NP_056153.2:p.Asp1230=
XM_006723727.2:c.3685G=	XP_006723790.1:p.Asp1229=
XM_006723728.2:c.3658G=	XP_006723791.1:p.Asp1220=
XM_006723730.2:c.3604G=	XP_006723793.1:p.Asp1202=
XM_006723732.2:c.3505G=	XP_006723795.1:p.Asp1169=
XM_006723733.1:c.3004G=	XP_006723796.1:p.Asp1002=
XM_011528647.1:c.3952G=	XP_011526949.1:p.Asp1318=
XM_011528648.1:c.3949G=	XP_011526950.1:p.Asp1317=
XM_011528649.1:c.3868G=	XP_011526951.1:p.Asp1290=
XM_011528650.1:c.3799G=	XP_011526952.1:p.Asp1267=
XM_011528651.1:c.3667G=	XP_011526953.1:p.Asp1223=
XM_011528652.1:c.3604G=	XP_011526954.1:p.Asp1202=
NM_001363734.1:c.3505G=	NP_001350663.1:p.Asp1169=
XM_006723727.3:c.3685G=	XP_006723790.1:p.Asp1229=
XM_006723728.3:c.3658G=	XP_006723791.1:p.Asp1220=
XM_006723730.4:c.3604G=	XP_006723793.1:p.Asp1202=
XM_011528648.3:c.3949G=	XP_011526950.1:p.Asp1317=
XM_011528652.2:c.3604G=	XP_011526954.1:p.Asp1202=
XM_017027704.1:c.3604G=	XP_016883193.1:p.Asp1202=
XM_017027705.1:c.3604G=	XP_016883194.1:p.Asp1202=
XM_017027706.1:c.3535G=	XP_016883195.1:p.Asp1179=
NM_015338.6:c.3688G= MANE Select	NP_056153.2:p.Asp1230=