Canonical Allele Identifier: CA2360293549
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436136C= , CM000682.2:g.32436136C= GRCh38
NC_000020.10:g.31023939C= , CM000682.1:g.31023939C= GRCh37
NC_000020.9:g.30487600C= NCBI36
NG_027868.1:g.82793C= , LRG_630:g.82793C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3424C= MANE Select ENSP00000364839.4:p.Gln1142=
ENST00000646985.1:c.3241C= ENSP00000495053.1:p.Gln1081=
ENST00000647223.1:n.5777C=
ENST00000651418.1:c.1869+1555C= ENSP00000499150.1:n.1869+1555C=
ENST00000306058.9:c.3409C= ENSP00000305119.5:p.Gln1137=
ENST00000375687.8:c.3424C= ENSP00000364839.4:p.Gln1142=
ENST00000613218.4:c.3424C= ENSP00000480487.1:p.Gln1142=
ENST00000620121.4:c.3424C= ENSP00000481978.1:p.Gln1142=
NM_015338.5:c.3424C= , LRG_630t1:c.3424C= NP_056153.2:p.Gln1142=
XM_006723727.2:c.3421C= XP_006723790.1:p.Gln1141=
XM_006723728.2:c.3394C= XP_006723791.1:p.Gln1132=
XM_006723730.2:c.3340C= XP_006723793.1:p.Gln1114=
XM_006723732.2:c.3241C= XP_006723795.1:p.Gln1081=
XM_006723733.1:c.2740C= XP_006723796.1:p.Gln914=
XM_011528647.1:c.3688C= XP_011526949.1:p.Gln1230=
XM_011528648.1:c.3685C= XP_011526950.1:p.Gln1229=
XM_011528649.1:c.3604C= XP_011526951.1:p.Gln1202=
XM_011528650.1:c.3535C= XP_011526952.1:p.Gln1179=
XM_011528651.1:c.3403C= XP_011526953.1:p.Gln1135=
XM_011528652.1:c.3340C= XP_011526954.1:p.Gln1114=
NM_001363734.1:c.3241C= NP_001350663.1:p.Gln1081=
XM_006723727.3:c.3421C= XP_006723790.1:p.Gln1141=
XM_006723728.3:c.3394C= XP_006723791.1:p.Gln1132=
XM_006723730.4:c.3340C= XP_006723793.1:p.Gln1114=
XM_011528648.3:c.3685C= XP_011526950.1:p.Gln1229=
XM_011528652.2:c.3340C= XP_011526954.1:p.Gln1114=
XM_017027704.1:c.3340C= XP_016883193.1:p.Gln1114=
XM_017027705.1:c.3340C= XP_016883194.1:p.Gln1114=
XM_017027706.1:c.3271C= XP_016883195.1:p.Gln1091=
NM_015338.6:c.3424C= MANE Select NP_056153.2:p.Gln1142=