Canonical Allele Identifier: CA408553885

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32431446C>G , CM000682.2:g.32431446C>G	GRCh38
NC_000020.10:g.31019249C>G , CM000682.1:g.31019249C>G	GRCh37
NC_000020.9:g.30482910C>G	NCBI36
NG_027868.1:g.78103C>G , LRG_630:g.78103C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.844C>G MANE Select	ENSP00000364839.4:p.Gln282Glu
ENST00000555564.2:n.298C>G
ENST00000646985.1:c.661C>G	ENSP00000495053.1:p.Gln221Glu
ENST00000647223.1:n.2683C>G
ENST00000651418.1:c.844C>G	ENSP00000499150.1:p.Gln282Glu
ENST00000306058.9:c.829C>G	ENSP00000305119.5:p.Gln277Glu
ENST00000375687.8:c.844C>G	ENSP00000364839.4:p.Gln282Glu
ENST00000553345.5:n.441C>G
ENST00000555564.1:n.430C>G
ENST00000613218.4:c.844C>G	ENSP00000480487.1:p.Gln282Glu
ENST00000619344.4:n.440C>G
ENST00000620121.4:c.844C>G	ENSP00000481978.1:p.Gln282Glu
NM_015338.5:c.844C>G , LRG_630t1:c.844C>G	NP_056153.2:p.Gln282Glu
XM_006723727.2:c.841C>G	XP_006723790.1:p.Gln281Glu
XM_006723728.2:c.814C>G	XP_006723791.1:p.Gln272Glu
XM_006723730.2:c.760C>G	XP_006723793.1:p.Gln254Glu
XM_006723732.2:c.661C>G	XP_006723795.1:p.Gln221Glu
XM_006723733.1:c.160C>G	XP_006723796.1:p.Gln54Glu
XM_011528647.1:c.1108C>G	XP_011526949.1:p.Gln370Glu
XM_011528648.1:c.1105C>G	XP_011526950.1:p.Gln369Glu
XM_011528649.1:c.1024C>G	XP_011526951.1:p.Gln342Glu
XM_011528650.1:c.955C>G	XP_011526952.1:p.Gln319Glu
XM_011528651.1:c.823C>G	XP_011526953.1:p.Gln275Glu
XM_011528652.1:c.760C>G	XP_011526954.1:p.Gln254Glu
NM_001363734.1:c.661C>G	NP_001350663.1:p.Gln221Glu
XM_006723727.3:c.841C>G	XP_006723790.1:p.Gln281Glu
XM_006723728.3:c.814C>G	XP_006723791.1:p.Gln272Glu
XM_006723730.4:c.760C>G	XP_006723793.1:p.Gln254Glu
XM_011528648.3:c.1105C>G	XP_011526950.1:p.Gln369Glu
XM_011528652.2:c.760C>G	XP_011526954.1:p.Gln254Glu
XM_017027704.1:c.760C>G	XP_016883193.1:p.Gln254Glu
XM_017027705.1:c.760C>G	XP_016883194.1:p.Gln254Glu
XM_017027706.1:c.691C>G	XP_016883195.1:p.Gln231Glu
NM_015338.6:c.844C>G MANE Select	NP_056153.2:p.Gln282Glu