Canonical Allele Identifier: CA2360289941
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428158G= , CM000682.2:g.32428158G= GRCh38
NC_000020.10:g.31015961G= , CM000682.1:g.31015961G= GRCh37
NC_000020.9:g.30479622G= NCBI36
NG_027868.1:g.74815G= , LRG_630:g.74815G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.283G= MANE Select ENSP00000364839.4:p.Ala95=
ENST00000470145.3:n.226G=
ENST00000643168.1:c.199G= ENSP00000495003.1:p.Ala67=
ENST00000644060.1:n.1087G=
ENST00000644587.1:c.*122G= ENSP00000494813.1:n.*122G=
ENST00000645514.1:n.31G=
ENST00000645688.1:c.199G= ENSP00000495488.1:p.Ala67=
ENST00000646985.1:c.253G= ENSP00000495053.1:p.Ala85=
ENST00000651418.1:c.283G= ENSP00000499150.1:p.Ala95=
ENST00000306058.9:c.268G= ENSP00000305119.5:p.Ala90=
ENST00000375687.8:c.283G= ENSP00000364839.4:p.Ala95=
ENST00000470145.2:n.226G=
ENST00000613218.4:c.283G= ENSP00000480487.1:p.Ala95=
ENST00000620121.4:c.283G= ENSP00000481978.1:p.Ala95=
NM_015338.5:c.283G= , LRG_630t1:c.283G= NP_056153.2:p.Ala95=
XM_006723727.2:c.280G= XP_006723790.1:p.Ala94=
XM_006723728.2:c.253G= XP_006723791.1:p.Ala85=
XM_006723730.2:c.199G= XP_006723793.1:p.Ala67=
XM_006723732.2:c.253G= XP_006723795.1:p.Ala85=
XM_011528647.1:c.547G= XP_011526949.1:p.Ala183=
XM_011528648.1:c.544G= XP_011526950.1:p.Ala182=
XM_011528649.1:c.463G= XP_011526951.1:p.Ala155=
XM_011528650.1:c.547G= XP_011526952.1:p.Ala183=
XM_011528651.1:c.262G= XP_011526953.1:p.Ala88=
XM_011528652.1:c.199G= XP_011526954.1:p.Ala67=
NM_001363734.1:c.253G= NP_001350663.1:p.Ala85=
XM_006723727.3:c.280G= XP_006723790.1:p.Ala94=
XM_006723728.3:c.253G= XP_006723791.1:p.Ala85=
XM_006723730.4:c.199G= XP_006723793.1:p.Ala67=
XM_011528648.3:c.544G= XP_011526950.1:p.Ala182=
XM_011528652.2:c.199G= XP_011526954.1:p.Ala67=
XM_017027704.1:c.199G= XP_016883193.1:p.Ala67=
XM_017027705.1:c.199G= XP_016883194.1:p.Ala67=
XM_017027706.1:c.283G= XP_016883195.1:p.Ala95=
NM_015338.6:c.283G= MANE Select NP_056153.2:p.Ala95=