Canonical Allele Identifier: CA9808511

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434669G>A , CM000682.2:g.32434669G>A	GRCh38
NC_000020.10:g.31022472G>A , CM000682.1:g.31022472G>A	GRCh37
NC_000020.9:g.30486133G>A	NCBI36
NG_027868.1:g.81326G>A , LRG_630:g.81326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1957G>A MANE Select	ENSP00000364839.4:p.Gly653Arg
ENST00000646985.1:c.1774G>A	ENSP00000495053.1:p.Gly592Arg
ENST00000647223.1:n.4310G>A
ENST00000651418.1:c.1869+88G>A	ENSP00000499150.1:n.1869+88G>A
ENST00000306058.9:c.1942G>A	ENSP00000305119.5:p.Gly648Arg
ENST00000375687.8:c.1957G>A	ENSP00000364839.4:p.Gly653Arg
ENST00000613218.4:c.1957G>A	ENSP00000480487.1:p.Gly653Arg
ENST00000620121.4:c.1957G>A	ENSP00000481978.1:p.Gly653Arg
NM_015338.5:c.1957G>A , LRG_630t1:c.1957G>A	NP_056153.2:p.Gly653Arg
XM_006723727.2:c.1954G>A	XP_006723790.1:p.Gly652Arg
XM_006723728.2:c.1927G>A	XP_006723791.1:p.Gly643Arg
XM_006723730.2:c.1873G>A	XP_006723793.1:p.Gly625Arg
XM_006723732.2:c.1774G>A	XP_006723795.1:p.Gly592Arg
XM_006723733.1:c.1273G>A	XP_006723796.1:p.Gly425Arg
XM_011528647.1:c.2221G>A	XP_011526949.1:p.Gly741Arg
XM_011528648.1:c.2218G>A	XP_011526950.1:p.Gly740Arg
XM_011528649.1:c.2137G>A	XP_011526951.1:p.Gly713Arg
XM_011528650.1:c.2068G>A	XP_011526952.1:p.Gly690Arg
XM_011528651.1:c.1936G>A	XP_011526953.1:p.Gly646Arg
XM_011528652.1:c.1873G>A	XP_011526954.1:p.Gly625Arg
NM_001363734.1:c.1774G>A	NP_001350663.1:p.Gly592Arg
XM_006723727.3:c.1954G>A	XP_006723790.1:p.Gly652Arg
XM_006723728.3:c.1927G>A	XP_006723791.1:p.Gly643Arg
XM_006723730.4:c.1873G>A	XP_006723793.1:p.Gly625Arg
XM_011528648.3:c.2218G>A	XP_011526950.1:p.Gly740Arg
XM_011528652.2:c.1873G>A	XP_011526954.1:p.Gly625Arg
XM_017027704.1:c.1873G>A	XP_016883193.1:p.Gly625Arg
XM_017027705.1:c.1873G>A	XP_016883194.1:p.Gly625Arg
XM_017027706.1:c.1804G>A	XP_016883195.1:p.Gly602Arg
NM_015338.6:c.1957G>A MANE Select	NP_056153.2:p.Gly653Arg