Canonical Allele Identifier: CA2360293530
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436096C= , CM000682.2:g.32436096C= GRCh38
NC_000020.10:g.31023899C= , CM000682.1:g.31023899C= GRCh37
NC_000020.9:g.30487560C= NCBI36
NG_027868.1:g.82753C= , LRG_630:g.82753C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3384C= MANE Select ENSP00000364839.4:p.Asp1128=
ENST00000646985.1:c.3201C= ENSP00000495053.1:p.Asp1067=
ENST00000647223.1:n.5737C=
ENST00000651418.1:c.1869+1515C= ENSP00000499150.1:n.1869+1515C=
ENST00000306058.9:c.3369C= ENSP00000305119.5:p.Asp1123=
ENST00000375687.8:c.3384C= ENSP00000364839.4:p.Asp1128=
ENST00000613218.4:c.3384C= ENSP00000480487.1:p.Asp1128=
ENST00000620121.4:c.3384C= ENSP00000481978.1:p.Asp1128=
NM_015338.5:c.3384C= , LRG_630t1:c.3384C= NP_056153.2:p.Asp1128=
XM_006723727.2:c.3381C= XP_006723790.1:p.Asp1127=
XM_006723728.2:c.3354C= XP_006723791.1:p.Asp1118=
XM_006723730.2:c.3300C= XP_006723793.1:p.Asp1100=
XM_006723732.2:c.3201C= XP_006723795.1:p.Asp1067=
XM_006723733.1:c.2700C= XP_006723796.1:p.Asp900=
XM_011528647.1:c.3648C= XP_011526949.1:p.Asp1216=
XM_011528648.1:c.3645C= XP_011526950.1:p.Asp1215=
XM_011528649.1:c.3564C= XP_011526951.1:p.Asp1188=
XM_011528650.1:c.3495C= XP_011526952.1:p.Asp1165=
XM_011528651.1:c.3363C= XP_011526953.1:p.Asp1121=
XM_011528652.1:c.3300C= XP_011526954.1:p.Asp1100=
NM_001363734.1:c.3201C= NP_001350663.1:p.Asp1067=
XM_006723727.3:c.3381C= XP_006723790.1:p.Asp1127=
XM_006723728.3:c.3354C= XP_006723791.1:p.Asp1118=
XM_006723730.4:c.3300C= XP_006723793.1:p.Asp1100=
XM_011528648.3:c.3645C= XP_011526950.1:p.Asp1215=
XM_011528652.2:c.3300C= XP_011526954.1:p.Asp1100=
XM_017027704.1:c.3300C= XP_016883193.1:p.Asp1100=
XM_017027705.1:c.3300C= XP_016883194.1:p.Asp1100=
XM_017027706.1:c.3231C= XP_016883195.1:p.Asp1077=
NM_015338.6:c.3384C= MANE Select NP_056153.2:p.Asp1128=