Canonical Allele Identifier: CA408562890
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436068A>T , CM000682.2:g.32436068A>T GRCh38
NC_000020.10:g.31023871A>T , CM000682.1:g.31023871A>T GRCh37
NC_000020.9:g.30487532A>T NCBI36
NG_027868.1:g.82725A>T , LRG_630:g.82725A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3356A>T MANE Select ENSP00000364839.4:p.Glu1119Val
ENST00000646985.1:c.3173A>T ENSP00000495053.1:p.Glu1058Val
ENST00000647223.1:n.5709A>T
ENST00000651418.1:c.1869+1487A>T ENSP00000499150.1:n.1869+1487A>T
ENST00000306058.9:c.3341A>T ENSP00000305119.5:p.Glu1114Val
ENST00000375687.8:c.3356A>T ENSP00000364839.4:p.Glu1119Val
ENST00000613218.4:c.3356A>T ENSP00000480487.1:p.Glu1119Val
ENST00000620121.4:c.3356A>T ENSP00000481978.1:p.Glu1119Val
NM_015338.5:c.3356A>T , LRG_630t1:c.3356A>T NP_056153.2:p.Glu1119Val
XM_006723727.2:c.3353A>T XP_006723790.1:p.Glu1118Val
XM_006723728.2:c.3326A>T XP_006723791.1:p.Glu1109Val
XM_006723730.2:c.3272A>T XP_006723793.1:p.Glu1091Val
XM_006723732.2:c.3173A>T XP_006723795.1:p.Glu1058Val
XM_006723733.1:c.2672A>T XP_006723796.1:p.Glu891Val
XM_011528647.1:c.3620A>T XP_011526949.1:p.Glu1207Val
XM_011528648.1:c.3617A>T XP_011526950.1:p.Glu1206Val
XM_011528649.1:c.3536A>T XP_011526951.1:p.Glu1179Val
XM_011528650.1:c.3467A>T XP_011526952.1:p.Glu1156Val
XM_011528651.1:c.3335A>T XP_011526953.1:p.Glu1112Val
XM_011528652.1:c.3272A>T XP_011526954.1:p.Glu1091Val
NM_001363734.1:c.3173A>T NP_001350663.1:p.Glu1058Val
XM_006723727.3:c.3353A>T XP_006723790.1:p.Glu1118Val
XM_006723728.3:c.3326A>T XP_006723791.1:p.Glu1109Val
XM_006723730.4:c.3272A>T XP_006723793.1:p.Glu1091Val
XM_011528648.3:c.3617A>T XP_011526950.1:p.Glu1206Val
XM_011528652.2:c.3272A>T XP_011526954.1:p.Glu1091Val
XM_017027704.1:c.3272A>T XP_016883193.1:p.Glu1091Val
XM_017027705.1:c.3272A>T XP_016883194.1:p.Glu1091Val
XM_017027706.1:c.3203A>T XP_016883195.1:p.Glu1068Val
NM_015338.6:c.3356A>T MANE Select NP_056153.2:p.Glu1119Val