Canonical Allele Identifier: CA2360289938

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428149C= , CM000682.2:g.32428149C=	GRCh38
NC_000020.10:g.31015952C= , CM000682.1:g.31015952C=	GRCh37
NC_000020.9:g.30479613C=	NCBI36
NG_027868.1:g.74806C= , LRG_630:g.74806C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.274C= MANE Select	ENSP00000364839.4:p.Arg92=
ENST00000470145.3:n.217C=
ENST00000643168.1:c.190C=	ENSP00000495003.1:p.Arg64=
ENST00000644060.1:n.1078C=
ENST00000644587.1:c.*113C=	ENSP00000494813.1:n.*113C=
ENST00000645514.1:n.22C=
ENST00000645688.1:c.190C=	ENSP00000495488.1:p.Arg64=
ENST00000646985.1:c.244C=	ENSP00000495053.1:p.Arg82=
ENST00000651418.1:c.274C=	ENSP00000499150.1:p.Arg92=
ENST00000306058.9:c.259C=	ENSP00000305119.5:p.Arg87=
ENST00000375687.8:c.274C=	ENSP00000364839.4:p.Arg92=
ENST00000470145.2:n.217C=
ENST00000613218.4:c.274C=	ENSP00000480487.1:p.Arg92=
ENST00000620121.4:c.274C=	ENSP00000481978.1:p.Arg92=
NM_015338.5:c.274C= , LRG_630t1:c.274C=	NP_056153.2:p.Arg92=
XM_006723727.2:c.271C=	XP_006723790.1:p.Arg91=
XM_006723728.2:c.244C=	XP_006723791.1:p.Arg82=
XM_006723730.2:c.190C=	XP_006723793.1:p.Arg64=
XM_006723732.2:c.244C=	XP_006723795.1:p.Arg82=
XM_011528647.1:c.538C=	XP_011526949.1:p.Arg180=
XM_011528648.1:c.535C=	XP_011526950.1:p.Arg179=
XM_011528649.1:c.454C=	XP_011526951.1:p.Arg152=
XM_011528650.1:c.538C=	XP_011526952.1:p.Arg180=
XM_011528651.1:c.253C=	XP_011526953.1:p.Arg85=
XM_011528652.1:c.190C=	XP_011526954.1:p.Arg64=
NM_001363734.1:c.244C=	NP_001350663.1:p.Arg82=
XM_006723727.3:c.271C=	XP_006723790.1:p.Arg91=
XM_006723728.3:c.244C=	XP_006723791.1:p.Arg82=
XM_006723730.4:c.190C=	XP_006723793.1:p.Arg64=
XM_011528648.3:c.535C=	XP_011526950.1:p.Arg179=
XM_011528652.2:c.190C=	XP_011526954.1:p.Arg64=
XM_017027704.1:c.190C=	XP_016883193.1:p.Arg64=
XM_017027705.1:c.190C=	XP_016883194.1:p.Arg64=
XM_017027706.1:c.274C=	XP_016883195.1:p.Arg92=
NM_015338.6:c.274C= MANE Select	NP_056153.2:p.Arg92=