Canonical Allele Identifier: CA2360293685
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436406A= , CM000682.2:g.32436406A= GRCh38
NC_000020.10:g.31024209A= , CM000682.1:g.31024209A= GRCh37
NC_000020.9:g.30487870A= NCBI36
NG_027868.1:g.83063A= , LRG_630:g.83063A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3694A= MANE Select ENSP00000364839.4:p.Lys1232=
ENST00000646985.1:c.3511A= ENSP00000495053.1:p.Lys1171=
ENST00000647223.1:n.6047A=
ENST00000651418.1:c.1869+1825A= ENSP00000499150.1:n.1869+1825A=
ENST00000306058.9:c.3679A= ENSP00000305119.5:p.Lys1227=
ENST00000375687.8:c.3694A= ENSP00000364839.4:p.Lys1232=
ENST00000613218.4:c.3694A= ENSP00000480487.1:p.Lys1232=
ENST00000620121.4:c.3694A= ENSP00000481978.1:p.Lys1232=
NM_015338.5:c.3694A= , LRG_630t1:c.3694A= NP_056153.2:p.Lys1232=
XM_006723727.2:c.3691A= XP_006723790.1:p.Lys1231=
XM_006723728.2:c.3664A= XP_006723791.1:p.Lys1222=
XM_006723730.2:c.3610A= XP_006723793.1:p.Lys1204=
XM_006723732.2:c.3511A= XP_006723795.1:p.Lys1171=
XM_006723733.1:c.3010A= XP_006723796.1:p.Lys1004=
XM_011528647.1:c.3958A= XP_011526949.1:p.Lys1320=
XM_011528648.1:c.3955A= XP_011526950.1:p.Lys1319=
XM_011528649.1:c.3874A= XP_011526951.1:p.Lys1292=
XM_011528650.1:c.3805A= XP_011526952.1:p.Lys1269=
XM_011528651.1:c.3673A= XP_011526953.1:p.Lys1225=
XM_011528652.1:c.3610A= XP_011526954.1:p.Lys1204=
NM_001363734.1:c.3511A= NP_001350663.1:p.Lys1171=
XM_006723727.3:c.3691A= XP_006723790.1:p.Lys1231=
XM_006723728.3:c.3664A= XP_006723791.1:p.Lys1222=
XM_006723730.4:c.3610A= XP_006723793.1:p.Lys1204=
XM_011528648.3:c.3955A= XP_011526950.1:p.Lys1319=
XM_011528652.2:c.3610A= XP_011526954.1:p.Lys1204=
XM_017027704.1:c.3610A= XP_016883193.1:p.Lys1204=
XM_017027705.1:c.3610A= XP_016883194.1:p.Lys1204=
XM_017027706.1:c.3541A= XP_016883195.1:p.Lys1181=
NM_015338.6:c.3694A= MANE Select NP_056153.2:p.Lys1232=