Canonical Allele Identifier: CA157032

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434963G>A , CM000682.2:g.32434963G>A	GRCh38
NC_000020.10:g.31022766G>A , CM000682.1:g.31022766G>A	GRCh37
NC_000020.9:g.30486427G>A	NCBI36
NG_027868.1:g.81620G>A , LRG_630:g.81620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.2251G>A MANE Select	ENSP00000364839.4:p.Val751Ile
ENST00000646985.1:c.2068G>A	ENSP00000495053.1:p.Val690Ile
ENST00000647223.1:n.4604G>A
ENST00000651418.1:c.1869+382G>A	ENSP00000499150.1:n.1869+382G>A
ENST00000306058.9:c.2236G>A	ENSP00000305119.5:p.Val746Ile
ENST00000375687.8:c.2251G>A	ENSP00000364839.4:p.Val751Ile
ENST00000613218.4:c.2251G>A	ENSP00000480487.1:p.Val751Ile
ENST00000620121.4:c.2251G>A	ENSP00000481978.1:p.Val751Ile
NM_015338.5:c.2251G>A , LRG_630t1:c.2251G>A	NP_056153.2:p.Val751Ile
XM_006723727.2:c.2248G>A	XP_006723790.1:p.Val750Ile
XM_006723728.2:c.2221G>A	XP_006723791.1:p.Val741Ile
XM_006723730.2:c.2167G>A	XP_006723793.1:p.Val723Ile
XM_006723732.2:c.2068G>A	XP_006723795.1:p.Val690Ile
XM_006723733.1:c.1567G>A	XP_006723796.1:p.Val523Ile
XM_011528647.1:c.2515G>A	XP_011526949.1:p.Val839Ile
XM_011528648.1:c.2512G>A	XP_011526950.1:p.Val838Ile
XM_011528649.1:c.2431G>A	XP_011526951.1:p.Val811Ile
XM_011528650.1:c.2362G>A	XP_011526952.1:p.Val788Ile
XM_011528651.1:c.2230G>A	XP_011526953.1:p.Val744Ile
XM_011528652.1:c.2167G>A	XP_011526954.1:p.Val723Ile
NM_001363734.1:c.2068G>A	NP_001350663.1:p.Val690Ile
XM_006723727.3:c.2248G>A	XP_006723790.1:p.Val750Ile
XM_006723728.3:c.2221G>A	XP_006723791.1:p.Val741Ile
XM_006723730.4:c.2167G>A	XP_006723793.1:p.Val723Ile
XM_011528648.3:c.2512G>A	XP_011526950.1:p.Val838Ile
XM_011528652.2:c.2167G>A	XP_011526954.1:p.Val723Ile
XM_017027704.1:c.2167G>A	XP_016883193.1:p.Val723Ile
XM_017027705.1:c.2167G>A	XP_016883194.1:p.Val723Ile
XM_017027706.1:c.2098G>A	XP_016883195.1:p.Val700Ile
NM_015338.6:c.2251G>A MANE Select	NP_056153.2:p.Val751Ile