Canonical Allele Identifier: CA2360293842
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436738A= , CM000682.2:g.32436738A= GRCh38
NC_000020.10:g.31024541A= , CM000682.1:g.31024541A= GRCh37
NC_000020.9:g.30488202A= NCBI36
NG_027868.1:g.83395A= , LRG_630:g.83395A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4026A= MANE Select ENSP00000364839.4:p.Thr1342=
ENST00000646985.1:c.3843A= ENSP00000495053.1:p.Thr1281=
ENST00000647223.1:n.6379A=
ENST00000651418.1:c.1870-1692A= ENSP00000499150.1:n.1870-1692A=
ENST00000306058.9:c.4011A= ENSP00000305119.5:p.Thr1337=
ENST00000375687.8:c.4026A= ENSP00000364839.4:p.Thr1342=
ENST00000613218.4:c.4026A= ENSP00000480487.1:p.Thr1342=
ENST00000620121.4:c.4026A= ENSP00000481978.1:p.Thr1342=
NM_015338.5:c.4026A= , LRG_630t1:c.4026A= NP_056153.2:p.Thr1342=
XM_006723727.2:c.4023A= XP_006723790.1:p.Thr1341=
XM_006723728.2:c.3996A= XP_006723791.1:p.Thr1332=
XM_006723730.2:c.3942A= XP_006723793.1:p.Thr1314=
XM_006723732.2:c.3843A= XP_006723795.1:p.Thr1281=
XM_006723733.1:c.3342A= XP_006723796.1:p.Thr1114=
XM_011528647.1:c.4290A= XP_011526949.1:p.Thr1430=
XM_011528648.1:c.4287A= XP_011526950.1:p.Thr1429=
XM_011528649.1:c.4206A= XP_011526951.1:p.Thr1402=
XM_011528650.1:c.4137A= XP_011526952.1:p.Thr1379=
XM_011528651.1:c.4005A= XP_011526953.1:p.Thr1335=
XM_011528652.1:c.3942A= XP_011526954.1:p.Thr1314=
NM_001363734.1:c.3843A= NP_001350663.1:p.Thr1281=
XM_006723727.3:c.4023A= XP_006723790.1:p.Thr1341=
XM_006723728.3:c.3996A= XP_006723791.1:p.Thr1332=
XM_006723730.4:c.3942A= XP_006723793.1:p.Thr1314=
XM_011528648.3:c.4287A= XP_011526950.1:p.Thr1429=
XM_011528652.2:c.3942A= XP_011526954.1:p.Thr1314=
XM_017027704.1:c.3942A= XP_016883193.1:p.Thr1314=
XM_017027705.1:c.3942A= XP_016883194.1:p.Thr1314=
XM_017027706.1:c.3873A= XP_016883195.1:p.Thr1291=
NM_015338.6:c.4026A= MANE Select NP_056153.2:p.Thr1342=