Canonical Allele Identifier: CA510465760
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32433408C>A , CM000682.2:g.32433408C>A GRCh38
NC_000020.10:g.31021211C>A , CM000682.1:g.31021211C>A GRCh37
NC_000020.9:g.30484872C>A NCBI36
NG_027868.1:g.80065C>A , LRG_630:g.80065C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.1210C>A MANE Select ENSP00000364839.4:p.Arg404=
ENST00000644168.1:n.752C>A
ENST00000646985.1:c.1027C>A ENSP00000495053.1:p.Arg343=
ENST00000647223.1:n.3049C>A
ENST00000651418.1:c.1210C>A ENSP00000499150.1:p.Arg404=
ENST00000306058.9:c.1195C>A ENSP00000305119.5:p.Arg399=
ENST00000375687.8:c.1210C>A ENSP00000364839.4:p.Arg404=
ENST00000553345.5:n.807C>A
ENST00000613218.4:c.1210C>A ENSP00000480487.1:p.Arg404=
ENST00000620121.4:c.1210C>A ENSP00000481978.1:p.Arg404=
NM_015338.5:c.1210C>A , LRG_630t1:c.1210C>A NP_056153.2:p.Arg404=
XM_006723727.2:c.1207C>A XP_006723790.1:p.Arg403=
XM_006723728.2:c.1180C>A XP_006723791.1:p.Arg394=
XM_006723730.2:c.1126C>A XP_006723793.1:p.Arg376=
XM_006723732.2:c.1027C>A XP_006723795.1:p.Arg343=
XM_006723733.1:c.526C>A XP_006723796.1:p.Arg176=
XM_011528647.1:c.1474C>A XP_011526949.1:p.Arg492=
XM_011528648.1:c.1471C>A XP_011526950.1:p.Arg491=
XM_011528649.1:c.1390C>A XP_011526951.1:p.Arg464=
XM_011528650.1:c.1321C>A XP_011526952.1:p.Arg441=
XM_011528651.1:c.1189C>A XP_011526953.1:p.Arg397=
XM_011528652.1:c.1126C>A XP_011526954.1:p.Arg376=
NM_001363734.1:c.1027C>A NP_001350663.1:p.Arg343=
XM_006723727.3:c.1207C>A XP_006723790.1:p.Arg403=
XM_006723728.3:c.1180C>A XP_006723791.1:p.Arg394=
XM_006723730.4:c.1126C>A XP_006723793.1:p.Arg376=
XM_011528648.3:c.1471C>A XP_011526950.1:p.Arg491=
XM_011528652.2:c.1126C>A XP_011526954.1:p.Arg376=
XM_017027704.1:c.1126C>A XP_016883193.1:p.Arg376=
XM_017027705.1:c.1126C>A XP_016883194.1:p.Arg376=
XM_017027706.1:c.1057C>A XP_016883195.1:p.Arg353=
NM_015338.6:c.1210C>A MANE Select NP_056153.2:p.Arg404=