Canonical Allele Identifier: CA2360293681
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436393A= , CM000682.2:g.32436393A= GRCh38
NC_000020.10:g.31024196A= , CM000682.1:g.31024196A= GRCh37
NC_000020.9:g.30487857A= NCBI36
NG_027868.1:g.83050A= , LRG_630:g.83050A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3681A= MANE Select ENSP00000364839.4:p.Glu1227=
ENST00000646985.1:c.3498A= ENSP00000495053.1:p.Glu1166=
ENST00000647223.1:n.6034A=
ENST00000651418.1:c.1869+1812A= ENSP00000499150.1:n.1869+1812A=
ENST00000306058.9:c.3666A= ENSP00000305119.5:p.Glu1222=
ENST00000375687.8:c.3681A= ENSP00000364839.4:p.Glu1227=
ENST00000613218.4:c.3681A= ENSP00000480487.1:p.Glu1227=
ENST00000620121.4:c.3681A= ENSP00000481978.1:p.Glu1227=
NM_015338.5:c.3681A= , LRG_630t1:c.3681A= NP_056153.2:p.Glu1227=
XM_006723727.2:c.3678A= XP_006723790.1:p.Glu1226=
XM_006723728.2:c.3651A= XP_006723791.1:p.Glu1217=
XM_006723730.2:c.3597A= XP_006723793.1:p.Glu1199=
XM_006723732.2:c.3498A= XP_006723795.1:p.Glu1166=
XM_006723733.1:c.2997A= XP_006723796.1:p.Glu999=
XM_011528647.1:c.3945A= XP_011526949.1:p.Glu1315=
XM_011528648.1:c.3942A= XP_011526950.1:p.Glu1314=
XM_011528649.1:c.3861A= XP_011526951.1:p.Glu1287=
XM_011528650.1:c.3792A= XP_011526952.1:p.Glu1264=
XM_011528651.1:c.3660A= XP_011526953.1:p.Glu1220=
XM_011528652.1:c.3597A= XP_011526954.1:p.Glu1199=
NM_001363734.1:c.3498A= NP_001350663.1:p.Glu1166=
XM_006723727.3:c.3678A= XP_006723790.1:p.Glu1226=
XM_006723728.3:c.3651A= XP_006723791.1:p.Glu1217=
XM_006723730.4:c.3597A= XP_006723793.1:p.Glu1199=
XM_011528648.3:c.3942A= XP_011526950.1:p.Glu1314=
XM_011528652.2:c.3597A= XP_011526954.1:p.Glu1199=
XM_017027704.1:c.3597A= XP_016883193.1:p.Glu1199=
XM_017027705.1:c.3597A= XP_016883194.1:p.Glu1199=
XM_017027706.1:c.3528A= XP_016883195.1:p.Glu1176=
NM_015338.6:c.3681A= MANE Select NP_056153.2:p.Glu1227=