Canonical Allele Identifier: CA2360293700
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436436G= , CM000682.2:g.32436436G= GRCh38
NC_000020.10:g.31024239G= , CM000682.1:g.31024239G= GRCh37
NC_000020.9:g.30487900G= NCBI36
NG_027868.1:g.83093G= , LRG_630:g.83093G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3724G= MANE Select ENSP00000364839.4:p.Asp1242=
ENST00000646985.1:c.3541G= ENSP00000495053.1:p.Asp1181=
ENST00000647223.1:n.6077G=
ENST00000651418.1:c.1869+1855G= ENSP00000499150.1:n.1869+1855G=
ENST00000306058.9:c.3709G= ENSP00000305119.5:p.Asp1237=
ENST00000375687.8:c.3724G= ENSP00000364839.4:p.Asp1242=
ENST00000613218.4:c.3724G= ENSP00000480487.1:p.Asp1242=
ENST00000620121.4:c.3724G= ENSP00000481978.1:p.Asp1242=
NM_015338.5:c.3724G= , LRG_630t1:c.3724G= NP_056153.2:p.Asp1242=
XM_006723727.2:c.3721G= XP_006723790.1:p.Asp1241=
XM_006723728.2:c.3694G= XP_006723791.1:p.Asp1232=
XM_006723730.2:c.3640G= XP_006723793.1:p.Asp1214=
XM_006723732.2:c.3541G= XP_006723795.1:p.Asp1181=
XM_006723733.1:c.3040G= XP_006723796.1:p.Asp1014=
XM_011528647.1:c.3988G= XP_011526949.1:p.Asp1330=
XM_011528648.1:c.3985G= XP_011526950.1:p.Asp1329=
XM_011528649.1:c.3904G= XP_011526951.1:p.Asp1302=
XM_011528650.1:c.3835G= XP_011526952.1:p.Asp1279=
XM_011528651.1:c.3703G= XP_011526953.1:p.Asp1235=
XM_011528652.1:c.3640G= XP_011526954.1:p.Asp1214=
NM_001363734.1:c.3541G= NP_001350663.1:p.Asp1181=
XM_006723727.3:c.3721G= XP_006723790.1:p.Asp1241=
XM_006723728.3:c.3694G= XP_006723791.1:p.Asp1232=
XM_006723730.4:c.3640G= XP_006723793.1:p.Asp1214=
XM_011528648.3:c.3985G= XP_011526950.1:p.Asp1329=
XM_011528652.2:c.3640G= XP_011526954.1:p.Asp1214=
XM_017027704.1:c.3640G= XP_016883193.1:p.Asp1214=
XM_017027705.1:c.3640G= XP_016883194.1:p.Asp1214=
XM_017027706.1:c.3571G= XP_016883195.1:p.Asp1191=
NM_015338.6:c.3724G= MANE Select NP_056153.2:p.Asp1242=