Canonical Allele Identifier: CA408559436

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434970C>G , CM000682.2:g.32434970C>G	GRCh38
NC_000020.10:g.31022773C>G , CM000682.1:g.31022773C>G	GRCh37
NC_000020.9:g.30486434C>G	NCBI36
NG_027868.1:g.81627C>G , LRG_630:g.81627C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.2258C>G MANE Select	ENSP00000364839.4:p.Pro753Arg
ENST00000646985.1:c.2075C>G	ENSP00000495053.1:p.Pro692Arg
ENST00000647223.1:n.4611C>G
ENST00000651418.1:c.1869+389C>G	ENSP00000499150.1:n.1869+389C>G
ENST00000306058.9:c.2243C>G	ENSP00000305119.5:p.Pro748Arg
ENST00000375687.8:c.2258C>G	ENSP00000364839.4:p.Pro753Arg
ENST00000613218.4:c.2258C>G	ENSP00000480487.1:p.Pro753Arg
ENST00000620121.4:c.2258C>G	ENSP00000481978.1:p.Pro753Arg
NM_015338.5:c.2258C>G , LRG_630t1:c.2258C>G	NP_056153.2:p.Pro753Arg
XM_006723727.2:c.2255C>G	XP_006723790.1:p.Pro752Arg
XM_006723728.2:c.2228C>G	XP_006723791.1:p.Pro743Arg
XM_006723730.2:c.2174C>G	XP_006723793.1:p.Pro725Arg
XM_006723732.2:c.2075C>G	XP_006723795.1:p.Pro692Arg
XM_006723733.1:c.1574C>G	XP_006723796.1:p.Pro525Arg
XM_011528647.1:c.2522C>G	XP_011526949.1:p.Pro841Arg
XM_011528648.1:c.2519C>G	XP_011526950.1:p.Pro840Arg
XM_011528649.1:c.2438C>G	XP_011526951.1:p.Pro813Arg
XM_011528650.1:c.2369C>G	XP_011526952.1:p.Pro790Arg
XM_011528651.1:c.2237C>G	XP_011526953.1:p.Pro746Arg
XM_011528652.1:c.2174C>G	XP_011526954.1:p.Pro725Arg
NM_001363734.1:c.2075C>G	NP_001350663.1:p.Pro692Arg
XM_006723727.3:c.2255C>G	XP_006723790.1:p.Pro752Arg
XM_006723728.3:c.2228C>G	XP_006723791.1:p.Pro743Arg
XM_006723730.4:c.2174C>G	XP_006723793.1:p.Pro725Arg
XM_011528648.3:c.2519C>G	XP_011526950.1:p.Pro840Arg
XM_011528652.2:c.2174C>G	XP_011526954.1:p.Pro725Arg
XM_017027704.1:c.2174C>G	XP_016883193.1:p.Pro725Arg
XM_017027705.1:c.2174C>G	XP_016883194.1:p.Pro725Arg
XM_017027706.1:c.2105C>G	XP_016883195.1:p.Pro702Arg
NM_015338.6:c.2258C>G MANE Select	NP_056153.2:p.Pro753Arg