Canonical Allele Identifier: CA408551687

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016042G>T (hg19) ; chr20:g.32428239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428239G>T , CM000682.2:g.32428239G>T	GRCh38
NC_000020.10:g.31016042G>T , CM000682.1:g.31016042G>T	GRCh37
NC_000020.9:g.30479703G>T	NCBI36
NG_027868.1:g.74896G>T , LRG_630:g.74896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.364G>T MANE Select	ENSP00000364839.4:p.Glu122Ter
ENST00000470145.3:n.307G>T
ENST00000643168.1:c.280G>T	ENSP00000495003.1:p.Glu94Ter
ENST00000644060.1:n.1168G>T
ENST00000644587.1:c.*203G>T	ENSP00000494813.1:n.*203G>T
ENST00000644615.1:n.68G>T
ENST00000645514.1:n.112G>T
ENST00000646985.1:c.334G>T	ENSP00000495053.1:p.Glu112Ter
ENST00000651418.1:c.364G>T	ENSP00000499150.1:p.Glu122Ter
ENST00000306058.9:c.349G>T	ENSP00000305119.5:p.Glu117Ter
ENST00000375687.8:c.364G>T	ENSP00000364839.4:p.Glu122Ter
ENST00000470145.2:n.307G>T
ENST00000613218.4:c.364G>T	ENSP00000480487.1:p.Glu122Ter
ENST00000620121.4:c.364G>T	ENSP00000481978.1:p.Glu122Ter
NM_015338.5:c.364G>T , LRG_630t1:c.364G>T	NP_056153.2:p.Glu122Ter
XM_006723727.2:c.361G>T	XP_006723790.1:p.Glu121Ter
XM_006723728.2:c.334G>T	XP_006723791.1:p.Glu112Ter
XM_006723730.2:c.280G>T	XP_006723793.1:p.Glu94Ter
XM_006723732.2:c.334G>T	XP_006723795.1:p.Glu112Ter
XM_011528647.1:c.628G>T	XP_011526949.1:p.Glu210Ter
XM_011528648.1:c.625G>T	XP_011526950.1:p.Glu209Ter
XM_011528649.1:c.544G>T	XP_011526951.1:p.Glu182Ter
XM_011528650.1:c.628G>T	XP_011526952.1:p.Glu210Ter
XM_011528651.1:c.343G>T	XP_011526953.1:p.Glu115Ter
XM_011528652.1:c.280G>T	XP_011526954.1:p.Glu94Ter
NM_001363734.1:c.334G>T	NP_001350663.1:p.Glu112Ter
XM_006723727.3:c.361G>T	XP_006723790.1:p.Glu121Ter
XM_006723728.3:c.334G>T	XP_006723791.1:p.Glu112Ter
XM_006723730.4:c.280G>T	XP_006723793.1:p.Glu94Ter
XM_011528648.3:c.625G>T	XP_011526950.1:p.Glu209Ter
XM_011528652.2:c.280G>T	XP_011526954.1:p.Glu94Ter
XM_017027704.1:c.280G>T	XP_016883193.1:p.Glu94Ter
XM_017027705.1:c.280G>T	XP_016883194.1:p.Glu94Ter
XM_017027706.1:c.364G>T	XP_016883195.1:p.Glu122Ter
NM_015338.6:c.364G>T MANE Select	NP_056153.2:p.Glu122Ter