Canonical Allele Identifier: CA9808570

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434934A>T , CM000682.2:g.32434934A>T	GRCh38
NC_000020.10:g.31022737A>T , CM000682.1:g.31022737A>T	GRCh37
NC_000020.9:g.30486398A>T	NCBI36
NG_027868.1:g.81591A>T , LRG_630:g.81591A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.2222A>T MANE Select	ENSP00000364839.4:p.Asp741Val
ENST00000646985.1:c.2039A>T	ENSP00000495053.1:p.Asp680Val
ENST00000647223.1:n.4575A>T
ENST00000651418.1:c.1869+353A>T	ENSP00000499150.1:n.1869+353A>T
ENST00000306058.9:c.2207A>T	ENSP00000305119.5:p.Asp736Val
ENST00000375687.8:c.2222A>T	ENSP00000364839.4:p.Asp741Val
ENST00000613218.4:c.2222A>T	ENSP00000480487.1:p.Asp741Val
ENST00000620121.4:c.2222A>T	ENSP00000481978.1:p.Asp741Val
NM_015338.5:c.2222A>T , LRG_630t1:c.2222A>T	NP_056153.2:p.Asp741Val
XM_006723727.2:c.2219A>T	XP_006723790.1:p.Asp740Val
XM_006723728.2:c.2192A>T	XP_006723791.1:p.Asp731Val
XM_006723730.2:c.2138A>T	XP_006723793.1:p.Asp713Val
XM_006723732.2:c.2039A>T	XP_006723795.1:p.Asp680Val
XM_006723733.1:c.1538A>T	XP_006723796.1:p.Asp513Val
XM_011528647.1:c.2486A>T	XP_011526949.1:p.Asp829Val
XM_011528648.1:c.2483A>T	XP_011526950.1:p.Asp828Val
XM_011528649.1:c.2402A>T	XP_011526951.1:p.Asp801Val
XM_011528650.1:c.2333A>T	XP_011526952.1:p.Asp778Val
XM_011528651.1:c.2201A>T	XP_011526953.1:p.Asp734Val
XM_011528652.1:c.2138A>T	XP_011526954.1:p.Asp713Val
NM_001363734.1:c.2039A>T	NP_001350663.1:p.Asp680Val
XM_006723727.3:c.2219A>T	XP_006723790.1:p.Asp740Val
XM_006723728.3:c.2192A>T	XP_006723791.1:p.Asp731Val
XM_006723730.4:c.2138A>T	XP_006723793.1:p.Asp713Val
XM_011528648.3:c.2483A>T	XP_011526950.1:p.Asp828Val
XM_011528652.2:c.2138A>T	XP_011526954.1:p.Asp713Val
XM_017027704.1:c.2138A>T	XP_016883193.1:p.Asp713Val
XM_017027705.1:c.2138A>T	XP_016883194.1:p.Asp713Val
XM_017027706.1:c.2069A>T	XP_016883195.1:p.Asp690Val
NM_015338.6:c.2222A>T MANE Select	NP_056153.2:p.Asp741Val