Canonical Allele Identifier: CA408563672
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436438T>A , CM000682.2:g.32436438T>A GRCh38
NC_000020.10:g.31024241T>A , CM000682.1:g.31024241T>A GRCh37
NC_000020.9:g.30487902T>A NCBI36
NG_027868.1:g.83095T>A , LRG_630:g.83095T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3726T>A MANE Select ENSP00000364839.4:p.Asp1242Glu
ENST00000646985.1:c.3543T>A ENSP00000495053.1:p.Asp1181Glu
ENST00000647223.1:n.6079T>A
ENST00000651418.1:c.1869+1857T>A ENSP00000499150.1:n.1869+1857T>A
ENST00000306058.9:c.3711T>A ENSP00000305119.5:p.Asp1237Glu
ENST00000375687.8:c.3726T>A ENSP00000364839.4:p.Asp1242Glu
ENST00000613218.4:c.3726T>A ENSP00000480487.1:p.Asp1242Glu
ENST00000620121.4:c.3726T>A ENSP00000481978.1:p.Asp1242Glu
NM_015338.5:c.3726T>A , LRG_630t1:c.3726T>A NP_056153.2:p.Asp1242Glu
XM_006723727.2:c.3723T>A XP_006723790.1:p.Asp1241Glu
XM_006723728.2:c.3696T>A XP_006723791.1:p.Asp1232Glu
XM_006723730.2:c.3642T>A XP_006723793.1:p.Asp1214Glu
XM_006723732.2:c.3543T>A XP_006723795.1:p.Asp1181Glu
XM_006723733.1:c.3042T>A XP_006723796.1:p.Asp1014Glu
XM_011528647.1:c.3990T>A XP_011526949.1:p.Asp1330Glu
XM_011528648.1:c.3987T>A XP_011526950.1:p.Asp1329Glu
XM_011528649.1:c.3906T>A XP_011526951.1:p.Asp1302Glu
XM_011528650.1:c.3837T>A XP_011526952.1:p.Asp1279Glu
XM_011528651.1:c.3705T>A XP_011526953.1:p.Asp1235Glu
XM_011528652.1:c.3642T>A XP_011526954.1:p.Asp1214Glu
NM_001363734.1:c.3543T>A NP_001350663.1:p.Asp1181Glu
XM_006723727.3:c.3723T>A XP_006723790.1:p.Asp1241Glu
XM_006723728.3:c.3696T>A XP_006723791.1:p.Asp1232Glu
XM_006723730.4:c.3642T>A XP_006723793.1:p.Asp1214Glu
XM_011528648.3:c.3987T>A XP_011526950.1:p.Asp1329Glu
XM_011528652.2:c.3642T>A XP_011526954.1:p.Asp1214Glu
XM_017027704.1:c.3642T>A XP_016883193.1:p.Asp1214Glu
XM_017027705.1:c.3642T>A XP_016883194.1:p.Asp1214Glu
XM_017027706.1:c.3573T>A XP_016883195.1:p.Asp1191Glu
NM_015338.6:c.3726T>A MANE Select NP_056153.2:p.Asp1242Glu