Canonical Allele Identifier: CA408558083

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434579C>G , CM000682.2:g.32434579C>G	GRCh38
NC_000020.10:g.31022382C>G , CM000682.1:g.31022382C>G	GRCh37
NC_000020.9:g.30486043C>G	NCBI36
NG_027868.1:g.81236C>G , LRG_630:g.81236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1867C>G MANE Select	ENSP00000364839.4:p.Gln623Glu
ENST00000644168.1:n.1409C>G
ENST00000646985.1:c.1684C>G	ENSP00000495053.1:p.Gln562Glu
ENST00000647223.1:n.4220C>G
ENST00000651418.1:c.1867C>G	ENSP00000499150.1:p.Gln623Glu
ENST00000306058.9:c.1852C>G	ENSP00000305119.5:p.Gln618Glu
ENST00000375687.8:c.1867C>G	ENSP00000364839.4:p.Gln623Glu
ENST00000613218.4:c.1867C>G	ENSP00000480487.1:p.Gln623Glu
ENST00000620121.4:c.1867C>G	ENSP00000481978.1:p.Gln623Glu
NM_015338.5:c.1867C>G , LRG_630t1:c.1867C>G	NP_056153.2:p.Gln623Glu
XM_006723727.2:c.1864C>G	XP_006723790.1:p.Gln622Glu
XM_006723728.2:c.1837C>G	XP_006723791.1:p.Gln613Glu
XM_006723730.2:c.1783C>G	XP_006723793.1:p.Gln595Glu
XM_006723732.2:c.1684C>G	XP_006723795.1:p.Gln562Glu
XM_006723733.1:c.1183C>G	XP_006723796.1:p.Gln395Glu
XM_011528647.1:c.2131C>G	XP_011526949.1:p.Gln711Glu
XM_011528648.1:c.2128C>G	XP_011526950.1:p.Gln710Glu
XM_011528649.1:c.2047C>G	XP_011526951.1:p.Gln683Glu
XM_011528650.1:c.1978C>G	XP_011526952.1:p.Gln660Glu
XM_011528651.1:c.1846C>G	XP_011526953.1:p.Gln616Glu
XM_011528652.1:c.1783C>G	XP_011526954.1:p.Gln595Glu
NM_001363734.1:c.1684C>G	NP_001350663.1:p.Gln562Glu
XM_006723727.3:c.1864C>G	XP_006723790.1:p.Gln622Glu
XM_006723728.3:c.1837C>G	XP_006723791.1:p.Gln613Glu
XM_006723730.4:c.1783C>G	XP_006723793.1:p.Gln595Glu
XM_011528648.3:c.2128C>G	XP_011526950.1:p.Gln710Glu
XM_011528652.2:c.1783C>G	XP_011526954.1:p.Gln595Glu
XM_017027704.1:c.1783C>G	XP_016883193.1:p.Gln595Glu
XM_017027705.1:c.1783C>G	XP_016883194.1:p.Gln595Glu
XM_017027706.1:c.1714C>G	XP_016883195.1:p.Gln572Glu
NM_015338.6:c.1867C>G MANE Select	NP_056153.2:p.Gln623Glu