Canonical Allele Identifier: CA2360293471
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435946T= , CM000682.2:g.32435946T= GRCh38
NC_000020.10:g.31023749T= , CM000682.1:g.31023749T= GRCh37
NC_000020.9:g.30487410T= NCBI36
NG_027868.1:g.82603T= , LRG_630:g.82603T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3234T= MANE Select ENSP00000364839.4:p.Asp1078=
ENST00000646985.1:c.3051T= ENSP00000495053.1:p.Asp1017=
ENST00000647223.1:n.5587T=
ENST00000651418.1:c.1869+1365T= ENSP00000499150.1:n.1869+1365T=
ENST00000306058.9:c.3219T= ENSP00000305119.5:p.Asp1073=
ENST00000375687.8:c.3234T= ENSP00000364839.4:p.Asp1078=
ENST00000613218.4:c.3234T= ENSP00000480487.1:p.Asp1078=
ENST00000620121.4:c.3234T= ENSP00000481978.1:p.Asp1078=
NM_015338.5:c.3234T= , LRG_630t1:c.3234T= NP_056153.2:p.Asp1078=
XM_006723727.2:c.3231T= XP_006723790.1:p.Asp1077=
XM_006723728.2:c.3204T= XP_006723791.1:p.Asp1068=
XM_006723730.2:c.3150T= XP_006723793.1:p.Asp1050=
XM_006723732.2:c.3051T= XP_006723795.1:p.Asp1017=
XM_006723733.1:c.2550T= XP_006723796.1:p.Asp850=
XM_011528647.1:c.3498T= XP_011526949.1:p.Asp1166=
XM_011528648.1:c.3495T= XP_011526950.1:p.Asp1165=
XM_011528649.1:c.3414T= XP_011526951.1:p.Asp1138=
XM_011528650.1:c.3345T= XP_011526952.1:p.Asp1115=
XM_011528651.1:c.3213T= XP_011526953.1:p.Asp1071=
XM_011528652.1:c.3150T= XP_011526954.1:p.Asp1050=
NM_001363734.1:c.3051T= NP_001350663.1:p.Asp1017=
XM_006723727.3:c.3231T= XP_006723790.1:p.Asp1077=
XM_006723728.3:c.3204T= XP_006723791.1:p.Asp1068=
XM_006723730.4:c.3150T= XP_006723793.1:p.Asp1050=
XM_011528648.3:c.3495T= XP_011526950.1:p.Asp1165=
XM_011528652.2:c.3150T= XP_011526954.1:p.Asp1050=
XM_017027704.1:c.3150T= XP_016883193.1:p.Asp1050=
XM_017027705.1:c.3150T= XP_016883194.1:p.Asp1050=
XM_017027706.1:c.3081T= XP_016883195.1:p.Asp1027=
NM_015338.6:c.3234T= MANE Select NP_056153.2:p.Asp1078=