Canonical Allele Identifier: CA2360293840
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436734G= , CM000682.2:g.32436734G= GRCh38
NC_000020.10:g.31024537G= , CM000682.1:g.31024537G= GRCh37
NC_000020.9:g.30488198G= NCBI36
NG_027868.1:g.83391G= , LRG_630:g.83391G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4022G= MANE Select ENSP00000364839.4:p.Ser1341=
ENST00000646985.1:c.3839G= ENSP00000495053.1:p.Ser1280=
ENST00000647223.1:n.6375G=
ENST00000651418.1:c.1870-1696G= ENSP00000499150.1:n.1870-1696G=
ENST00000306058.9:c.4007G= ENSP00000305119.5:p.Ser1336=
ENST00000375687.8:c.4022G= ENSP00000364839.4:p.Ser1341=
ENST00000613218.4:c.4022G= ENSP00000480487.1:p.Ser1341=
ENST00000620121.4:c.4022G= ENSP00000481978.1:p.Ser1341=
NM_015338.5:c.4022G= , LRG_630t1:c.4022G= NP_056153.2:p.Ser1341=
XM_006723727.2:c.4019G= XP_006723790.1:p.Ser1340=
XM_006723728.2:c.3992G= XP_006723791.1:p.Ser1331=
XM_006723730.2:c.3938G= XP_006723793.1:p.Ser1313=
XM_006723732.2:c.3839G= XP_006723795.1:p.Ser1280=
XM_006723733.1:c.3338G= XP_006723796.1:p.Ser1113=
XM_011528647.1:c.4286G= XP_011526949.1:p.Ser1429=
XM_011528648.1:c.4283G= XP_011526950.1:p.Ser1428=
XM_011528649.1:c.4202G= XP_011526951.1:p.Ser1401=
XM_011528650.1:c.4133G= XP_011526952.1:p.Ser1378=
XM_011528651.1:c.4001G= XP_011526953.1:p.Ser1334=
XM_011528652.1:c.3938G= XP_011526954.1:p.Ser1313=
NM_001363734.1:c.3839G= NP_001350663.1:p.Ser1280=
XM_006723727.3:c.4019G= XP_006723790.1:p.Ser1340=
XM_006723728.3:c.3992G= XP_006723791.1:p.Ser1331=
XM_006723730.4:c.3938G= XP_006723793.1:p.Ser1313=
XM_011528648.3:c.4283G= XP_011526950.1:p.Ser1428=
XM_011528652.2:c.3938G= XP_011526954.1:p.Ser1313=
XM_017027704.1:c.3938G= XP_016883193.1:p.Ser1313=
XM_017027705.1:c.3938G= XP_016883194.1:p.Ser1313=
XM_017027706.1:c.3869G= XP_016883195.1:p.Ser1290=
NM_015338.6:c.4022G= MANE Select NP_056153.2:p.Ser1341=