Canonical Allele Identifier: CA408562885
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436067G>A , CM000682.2:g.32436067G>A GRCh38
NC_000020.10:g.31023870G>A , CM000682.1:g.31023870G>A GRCh37
NC_000020.9:g.30487531G>A NCBI36
NG_027868.1:g.82724G>A , LRG_630:g.82724G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3355G>A MANE Select ENSP00000364839.4:p.Glu1119Lys
ENST00000646985.1:c.3172G>A ENSP00000495053.1:p.Glu1058Lys
ENST00000647223.1:n.5708G>A
ENST00000651418.1:c.1869+1486G>A ENSP00000499150.1:n.1869+1486G>A
ENST00000306058.9:c.3340G>A ENSP00000305119.5:p.Glu1114Lys
ENST00000375687.8:c.3355G>A ENSP00000364839.4:p.Glu1119Lys
ENST00000613218.4:c.3355G>A ENSP00000480487.1:p.Glu1119Lys
ENST00000620121.4:c.3355G>A ENSP00000481978.1:p.Glu1119Lys
NM_015338.5:c.3355G>A , LRG_630t1:c.3355G>A NP_056153.2:p.Glu1119Lys
XM_006723727.2:c.3352G>A XP_006723790.1:p.Glu1118Lys
XM_006723728.2:c.3325G>A XP_006723791.1:p.Glu1109Lys
XM_006723730.2:c.3271G>A XP_006723793.1:p.Glu1091Lys
XM_006723732.2:c.3172G>A XP_006723795.1:p.Glu1058Lys
XM_006723733.1:c.2671G>A XP_006723796.1:p.Glu891Lys
XM_011528647.1:c.3619G>A XP_011526949.1:p.Glu1207Lys
XM_011528648.1:c.3616G>A XP_011526950.1:p.Glu1206Lys
XM_011528649.1:c.3535G>A XP_011526951.1:p.Glu1179Lys
XM_011528650.1:c.3466G>A XP_011526952.1:p.Glu1156Lys
XM_011528651.1:c.3334G>A XP_011526953.1:p.Glu1112Lys
XM_011528652.1:c.3271G>A XP_011526954.1:p.Glu1091Lys
NM_001363734.1:c.3172G>A NP_001350663.1:p.Glu1058Lys
XM_006723727.3:c.3352G>A XP_006723790.1:p.Glu1118Lys
XM_006723728.3:c.3325G>A XP_006723791.1:p.Glu1109Lys
XM_006723730.4:c.3271G>A XP_006723793.1:p.Glu1091Lys
XM_011528648.3:c.3616G>A XP_011526950.1:p.Glu1206Lys
XM_011528652.2:c.3271G>A XP_011526954.1:p.Glu1091Lys
XM_017027704.1:c.3271G>A XP_016883193.1:p.Glu1091Lys
XM_017027705.1:c.3271G>A XP_016883194.1:p.Glu1091Lys
XM_017027706.1:c.3202G>A XP_016883195.1:p.Glu1068Lys
NM_015338.6:c.3355G>A MANE Select NP_056153.2:p.Glu1119Lys