Canonical Allele Identifier: CA408563608
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436410A>T , CM000682.2:g.32436410A>T GRCh38
NC_000020.10:g.31024213A>T , CM000682.1:g.31024213A>T GRCh37
NC_000020.9:g.30487874A>T NCBI36
NG_027868.1:g.83067A>T , LRG_630:g.83067A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3698A>T MANE Select ENSP00000364839.4:p.Glu1233Val
ENST00000646985.1:c.3515A>T ENSP00000495053.1:p.Glu1172Val
ENST00000647223.1:n.6051A>T
ENST00000651418.1:c.1869+1829A>T ENSP00000499150.1:n.1869+1829A>T
ENST00000306058.9:c.3683A>T ENSP00000305119.5:p.Glu1228Val
ENST00000375687.8:c.3698A>T ENSP00000364839.4:p.Glu1233Val
ENST00000613218.4:c.3698A>T ENSP00000480487.1:p.Glu1233Val
ENST00000620121.4:c.3698A>T ENSP00000481978.1:p.Glu1233Val
NM_015338.5:c.3698A>T , LRG_630t1:c.3698A>T NP_056153.2:p.Glu1233Val
XM_006723727.2:c.3695A>T XP_006723790.1:p.Glu1232Val
XM_006723728.2:c.3668A>T XP_006723791.1:p.Glu1223Val
XM_006723730.2:c.3614A>T XP_006723793.1:p.Glu1205Val
XM_006723732.2:c.3515A>T XP_006723795.1:p.Glu1172Val
XM_006723733.1:c.3014A>T XP_006723796.1:p.Glu1005Val
XM_011528647.1:c.3962A>T XP_011526949.1:p.Glu1321Val
XM_011528648.1:c.3959A>T XP_011526950.1:p.Glu1320Val
XM_011528649.1:c.3878A>T XP_011526951.1:p.Glu1293Val
XM_011528650.1:c.3809A>T XP_011526952.1:p.Glu1270Val
XM_011528651.1:c.3677A>T XP_011526953.1:p.Glu1226Val
XM_011528652.1:c.3614A>T XP_011526954.1:p.Glu1205Val
NM_001363734.1:c.3515A>T NP_001350663.1:p.Glu1172Val
XM_006723727.3:c.3695A>T XP_006723790.1:p.Glu1232Val
XM_006723728.3:c.3668A>T XP_006723791.1:p.Glu1223Val
XM_006723730.4:c.3614A>T XP_006723793.1:p.Glu1205Val
XM_011528648.3:c.3959A>T XP_011526950.1:p.Glu1320Val
XM_011528652.2:c.3614A>T XP_011526954.1:p.Glu1205Val
XM_017027704.1:c.3614A>T XP_016883193.1:p.Glu1205Val
XM_017027705.1:c.3614A>T XP_016883194.1:p.Glu1205Val
XM_017027706.1:c.3545A>T XP_016883195.1:p.Glu1182Val
NM_015338.6:c.3698A>T MANE Select NP_056153.2:p.Glu1233Val