Canonical Allele Identifier: CA2360293839
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436733A= , CM000682.2:g.32436733A= GRCh38
NC_000020.10:g.31024536A= , CM000682.1:g.31024536A= GRCh37
NC_000020.9:g.30488197A= NCBI36
NG_027868.1:g.83390A= , LRG_630:g.83390A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4021A= MANE Select ENSP00000364839.4:p.Ser1341=
ENST00000646985.1:c.3838A= ENSP00000495053.1:p.Ser1280=
ENST00000647223.1:n.6374A=
ENST00000651418.1:c.1870-1697A= ENSP00000499150.1:n.1870-1697A=
ENST00000306058.9:c.4006A= ENSP00000305119.5:p.Ser1336=
ENST00000375687.8:c.4021A= ENSP00000364839.4:p.Ser1341=
ENST00000613218.4:c.4021A= ENSP00000480487.1:p.Ser1341=
ENST00000620121.4:c.4021A= ENSP00000481978.1:p.Ser1341=
NM_015338.5:c.4021A= , LRG_630t1:c.4021A= NP_056153.2:p.Ser1341=
XM_006723727.2:c.4018A= XP_006723790.1:p.Ser1340=
XM_006723728.2:c.3991A= XP_006723791.1:p.Ser1331=
XM_006723730.2:c.3937A= XP_006723793.1:p.Ser1313=
XM_006723732.2:c.3838A= XP_006723795.1:p.Ser1280=
XM_006723733.1:c.3337A= XP_006723796.1:p.Ser1113=
XM_011528647.1:c.4285A= XP_011526949.1:p.Ser1429=
XM_011528648.1:c.4282A= XP_011526950.1:p.Ser1428=
XM_011528649.1:c.4201A= XP_011526951.1:p.Ser1401=
XM_011528650.1:c.4132A= XP_011526952.1:p.Ser1378=
XM_011528651.1:c.4000A= XP_011526953.1:p.Ser1334=
XM_011528652.1:c.3937A= XP_011526954.1:p.Ser1313=
NM_001363734.1:c.3838A= NP_001350663.1:p.Ser1280=
XM_006723727.3:c.4018A= XP_006723790.1:p.Ser1340=
XM_006723728.3:c.3991A= XP_006723791.1:p.Ser1331=
XM_006723730.4:c.3937A= XP_006723793.1:p.Ser1313=
XM_011528648.3:c.4282A= XP_011526950.1:p.Ser1428=
XM_011528652.2:c.3937A= XP_011526954.1:p.Ser1313=
XM_017027704.1:c.3937A= XP_016883193.1:p.Ser1313=
XM_017027705.1:c.3937A= XP_016883194.1:p.Ser1313=
XM_017027706.1:c.3868A= XP_016883195.1:p.Ser1290=
NM_015338.6:c.4021A= MANE Select NP_056153.2:p.Ser1341=