Canonical Allele Identifier: CA408558808

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434739A>G , CM000682.2:g.32434739A>G	GRCh38
NC_000020.10:g.31022542A>G , CM000682.1:g.31022542A>G	GRCh37
NC_000020.9:g.30486203A>G	NCBI36
NG_027868.1:g.81396A>G , LRG_630:g.81396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.2027A>G MANE Select	ENSP00000364839.4:p.Glu676Gly
ENST00000646985.1:c.1844A>G	ENSP00000495053.1:p.Glu615Gly
ENST00000647223.1:n.4380A>G
ENST00000651418.1:c.1869+158A>G	ENSP00000499150.1:n.1869+158A>G
ENST00000306058.9:c.2012A>G	ENSP00000305119.5:p.Glu671Gly
ENST00000375687.8:c.2027A>G	ENSP00000364839.4:p.Glu676Gly
ENST00000613218.4:c.2027A>G	ENSP00000480487.1:p.Glu676Gly
ENST00000620121.4:c.2027A>G	ENSP00000481978.1:p.Glu676Gly
NM_015338.5:c.2027A>G , LRG_630t1:c.2027A>G	NP_056153.2:p.Glu676Gly
XM_006723727.2:c.2024A>G	XP_006723790.1:p.Glu675Gly
XM_006723728.2:c.1997A>G	XP_006723791.1:p.Glu666Gly
XM_006723730.2:c.1943A>G	XP_006723793.1:p.Glu648Gly
XM_006723732.2:c.1844A>G	XP_006723795.1:p.Glu615Gly
XM_006723733.1:c.1343A>G	XP_006723796.1:p.Glu448Gly
XM_011528647.1:c.2291A>G	XP_011526949.1:p.Glu764Gly
XM_011528648.1:c.2288A>G	XP_011526950.1:p.Glu763Gly
XM_011528649.1:c.2207A>G	XP_011526951.1:p.Glu736Gly
XM_011528650.1:c.2138A>G	XP_011526952.1:p.Glu713Gly
XM_011528651.1:c.2006A>G	XP_011526953.1:p.Glu669Gly
XM_011528652.1:c.1943A>G	XP_011526954.1:p.Glu648Gly
NM_001363734.1:c.1844A>G	NP_001350663.1:p.Glu615Gly
XM_006723727.3:c.2024A>G	XP_006723790.1:p.Glu675Gly
XM_006723728.3:c.1997A>G	XP_006723791.1:p.Glu666Gly
XM_006723730.4:c.1943A>G	XP_006723793.1:p.Glu648Gly
XM_011528648.3:c.2288A>G	XP_011526950.1:p.Glu763Gly
XM_011528652.2:c.1943A>G	XP_011526954.1:p.Glu648Gly
XM_017027704.1:c.1943A>G	XP_016883193.1:p.Glu648Gly
XM_017027705.1:c.1943A>G	XP_016883194.1:p.Glu648Gly
XM_017027706.1:c.1874A>G	XP_016883195.1:p.Glu625Gly
NM_015338.6:c.2027A>G MANE Select	NP_056153.2:p.Glu676Gly