Canonical Allele Identifier: CA510200451

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016023A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428220A>G , CM000682.2:g.32428220A>G	GRCh38
NC_000020.10:g.31016023A>G , CM000682.1:g.31016023A>G	GRCh37
NC_000020.9:g.30479684A>G	NCBI36
NG_027868.1:g.74877A>G , LRG_630:g.74877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.345A>G MANE Select	ENSP00000364839.4:p.Glu115=
ENST00000470145.3:n.288A>G
ENST00000643168.1:c.261A>G	ENSP00000495003.1:p.Glu87=
ENST00000644060.1:n.1149A>G
ENST00000644587.1:c.*184A>G	ENSP00000494813.1:n.*184A>G
ENST00000644615.1:n.49A>G
ENST00000645514.1:n.93A>G
ENST00000646985.1:c.315A>G	ENSP00000495053.1:p.Glu105=
ENST00000651418.1:c.345A>G	ENSP00000499150.1:p.Glu115=
ENST00000306058.9:c.330A>G	ENSP00000305119.5:p.Glu110=
ENST00000375687.8:c.345A>G	ENSP00000364839.4:p.Glu115=
ENST00000470145.2:n.288A>G
ENST00000613218.4:c.345A>G	ENSP00000480487.1:p.Glu115=
ENST00000620121.4:c.345A>G	ENSP00000481978.1:p.Glu115=
NM_015338.5:c.345A>G , LRG_630t1:c.345A>G	NP_056153.2:p.Glu115=
XM_006723727.2:c.342A>G	XP_006723790.1:p.Glu114=
XM_006723728.2:c.315A>G	XP_006723791.1:p.Glu105=
XM_006723730.2:c.261A>G	XP_006723793.1:p.Glu87=
XM_006723732.2:c.315A>G	XP_006723795.1:p.Glu105=
XM_011528647.1:c.609A>G	XP_011526949.1:p.Glu203=
XM_011528648.1:c.606A>G	XP_011526950.1:p.Glu202=
XM_011528649.1:c.525A>G	XP_011526951.1:p.Glu175=
XM_011528650.1:c.609A>G	XP_011526952.1:p.Glu203=
XM_011528651.1:c.324A>G	XP_011526953.1:p.Glu108=
XM_011528652.1:c.261A>G	XP_011526954.1:p.Glu87=
NM_001363734.1:c.315A>G	NP_001350663.1:p.Glu105=
XM_006723727.3:c.342A>G	XP_006723790.1:p.Glu114=
XM_006723728.3:c.315A>G	XP_006723791.1:p.Glu105=
XM_006723730.4:c.261A>G	XP_006723793.1:p.Glu87=
XM_011528648.3:c.606A>G	XP_011526950.1:p.Glu202=
XM_011528652.2:c.261A>G	XP_011526954.1:p.Glu87=
XM_017027704.1:c.261A>G	XP_016883193.1:p.Glu87=
XM_017027705.1:c.261A>G	XP_016883194.1:p.Glu87=
XM_017027706.1:c.345A>G	XP_016883195.1:p.Glu115=
NM_015338.6:c.345A>G MANE Select	NP_056153.2:p.Glu115=