Canonical Allele Identifier: CA408564410
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436797C>T , CM000682.2:g.32436797C>T GRCh38
NC_000020.10:g.31024600C>T , CM000682.1:g.31024600C>T GRCh37
NC_000020.9:g.30488261C>T NCBI36
NG_027868.1:g.83454C>T , LRG_630:g.83454C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4085C>T MANE Select ENSP00000364839.4:p.Ala1362Val
ENST00000646985.1:c.3902C>T ENSP00000495053.1:p.Ala1301Val
ENST00000647223.1:n.6438C>T
ENST00000651418.1:c.1870-1633C>T ENSP00000499150.1:n.1870-1633C>T
ENST00000306058.9:c.4070C>T ENSP00000305119.5:p.Ala1357Val
ENST00000375687.8:c.4085C>T ENSP00000364839.4:p.Ala1362Val
ENST00000613218.4:c.4085C>T ENSP00000480487.1:p.Ala1362Val
ENST00000620121.4:c.4085C>T ENSP00000481978.1:p.Ala1362Val
NM_015338.5:c.4085C>T , LRG_630t1:c.4085C>T NP_056153.2:p.Ala1362Val
XM_006723727.2:c.4082C>T XP_006723790.1:p.Ala1361Val
XM_006723728.2:c.4055C>T XP_006723791.1:p.Ala1352Val
XM_006723730.2:c.4001C>T XP_006723793.1:p.Ala1334Val
XM_006723732.2:c.3902C>T XP_006723795.1:p.Ala1301Val
XM_006723733.1:c.3401C>T XP_006723796.1:p.Ala1134Val
XM_011528647.1:c.4349C>T XP_011526949.1:p.Ala1450Val
XM_011528648.1:c.4346C>T XP_011526950.1:p.Ala1449Val
XM_011528649.1:c.4265C>T XP_011526951.1:p.Ala1422Val
XM_011528650.1:c.4196C>T XP_011526952.1:p.Ala1399Val
XM_011528651.1:c.4064C>T XP_011526953.1:p.Ala1355Val
XM_011528652.1:c.4001C>T XP_011526954.1:p.Ala1334Val
NM_001363734.1:c.3902C>T NP_001350663.1:p.Ala1301Val
XM_006723727.3:c.4082C>T XP_006723790.1:p.Ala1361Val
XM_006723728.3:c.4055C>T XP_006723791.1:p.Ala1352Val
XM_006723730.4:c.4001C>T XP_006723793.1:p.Ala1334Val
XM_011528648.3:c.4346C>T XP_011526950.1:p.Ala1449Val
XM_011528652.2:c.4001C>T XP_011526954.1:p.Ala1334Val
XM_017027704.1:c.4001C>T XP_016883193.1:p.Ala1334Val
XM_017027705.1:c.4001C>T XP_016883194.1:p.Ala1334Val
XM_017027706.1:c.3932C>T XP_016883195.1:p.Ala1311Val
NM_015338.6:c.4085C>T MANE Select NP_056153.2:p.Ala1362Val