Canonical Allele Identifier: CA408551618

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016023A>C (hg19) ; chr20:g.32428220A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.345A>C MANE Select	ENSP00000364839.4:p.Glu115Asp
ENST00000470145.3:n.288A>C
ENST00000643168.1:c.261A>C	ENSP00000495003.1:p.Glu87Asp
ENST00000644060.1:n.1149A>C
ENST00000644587.1:c.*184A>C	ENSP00000494813.1:n.*184A>C
ENST00000644615.1:n.49A>C
ENST00000645514.1:n.93A>C
ENST00000646985.1:c.315A>C	ENSP00000495053.1:p.Glu105Asp
ENST00000651418.1:c.345A>C	ENSP00000499150.1:p.Glu115Asp
ENST00000306058.9:c.330A>C	ENSP00000305119.5:p.Glu110Asp
ENST00000375687.8:c.345A>C	ENSP00000364839.4:p.Glu115Asp
ENST00000470145.2:n.288A>C
ENST00000613218.4:c.345A>C	ENSP00000480487.1:p.Glu115Asp
ENST00000620121.4:c.345A>C	ENSP00000481978.1:p.Glu115Asp
NM_015338.5:c.345A>C , LRG_630t1:c.345A>C	NP_056153.2:p.Glu115Asp
XM_006723727.2:c.342A>C	XP_006723790.1:p.Glu114Asp
XM_006723728.2:c.315A>C	XP_006723791.1:p.Glu105Asp
XM_006723730.2:c.261A>C	XP_006723793.1:p.Glu87Asp
XM_006723732.2:c.315A>C	XP_006723795.1:p.Glu105Asp
XM_011528647.1:c.609A>C	XP_011526949.1:p.Glu203Asp
XM_011528648.1:c.606A>C	XP_011526950.1:p.Glu202Asp
XM_011528649.1:c.525A>C	XP_011526951.1:p.Glu175Asp
XM_011528650.1:c.609A>C	XP_011526952.1:p.Glu203Asp
XM_011528651.1:c.324A>C	XP_011526953.1:p.Glu108Asp
XM_011528652.1:c.261A>C	XP_011526954.1:p.Glu87Asp
NM_001363734.1:c.315A>C	NP_001350663.1:p.Glu105Asp
XM_006723727.3:c.342A>C	XP_006723790.1:p.Glu114Asp
XM_006723728.3:c.315A>C	XP_006723791.1:p.Glu105Asp
XM_006723730.4:c.261A>C	XP_006723793.1:p.Glu87Asp
XM_011528648.3:c.606A>C	XP_011526950.1:p.Glu202Asp
XM_011528652.2:c.261A>C	XP_011526954.1:p.Glu87Asp
XM_017027704.1:c.261A>C	XP_016883193.1:p.Glu87Asp
XM_017027705.1:c.261A>C	XP_016883194.1:p.Glu87Asp
XM_017027706.1:c.345A>C	XP_016883195.1:p.Glu115Asp
NM_015338.6:c.345A>C MANE Select	NP_056153.2:p.Glu115Asp