Canonical Allele Identifier: CA408564409
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4085C>G MANE Select ENSP00000364839.4:p.Ala1362Gly
ENST00000646985.1:c.3902C>G ENSP00000495053.1:p.Ala1301Gly
ENST00000647223.1:n.6438C>G
ENST00000651418.1:c.1870-1633C>G ENSP00000499150.1:n.1870-1633C>G
ENST00000306058.9:c.4070C>G ENSP00000305119.5:p.Ala1357Gly
ENST00000375687.8:c.4085C>G ENSP00000364839.4:p.Ala1362Gly
ENST00000613218.4:c.4085C>G ENSP00000480487.1:p.Ala1362Gly
ENST00000620121.4:c.4085C>G ENSP00000481978.1:p.Ala1362Gly
NM_015338.5:c.4085C>G , LRG_630t1:c.4085C>G NP_056153.2:p.Ala1362Gly
XM_006723727.2:c.4082C>G XP_006723790.1:p.Ala1361Gly
XM_006723728.2:c.4055C>G XP_006723791.1:p.Ala1352Gly
XM_006723730.2:c.4001C>G XP_006723793.1:p.Ala1334Gly
XM_006723732.2:c.3902C>G XP_006723795.1:p.Ala1301Gly
XM_006723733.1:c.3401C>G XP_006723796.1:p.Ala1134Gly
XM_011528647.1:c.4349C>G XP_011526949.1:p.Ala1450Gly
XM_011528648.1:c.4346C>G XP_011526950.1:p.Ala1449Gly
XM_011528649.1:c.4265C>G XP_011526951.1:p.Ala1422Gly
XM_011528650.1:c.4196C>G XP_011526952.1:p.Ala1399Gly
XM_011528651.1:c.4064C>G XP_011526953.1:p.Ala1355Gly
XM_011528652.1:c.4001C>G XP_011526954.1:p.Ala1334Gly
NM_001363734.1:c.3902C>G NP_001350663.1:p.Ala1301Gly
XM_006723727.3:c.4082C>G XP_006723790.1:p.Ala1361Gly
XM_006723728.3:c.4055C>G XP_006723791.1:p.Ala1352Gly
XM_006723730.4:c.4001C>G XP_006723793.1:p.Ala1334Gly
XM_011528648.3:c.4346C>G XP_011526950.1:p.Ala1449Gly
XM_011528652.2:c.4001C>G XP_011526954.1:p.Ala1334Gly
XM_017027704.1:c.4001C>G XP_016883193.1:p.Ala1334Gly
XM_017027705.1:c.4001C>G XP_016883194.1:p.Ala1334Gly
XM_017027706.1:c.3932C>G XP_016883195.1:p.Ala1311Gly
NM_015338.6:c.4085C>G MANE Select NP_056153.2:p.Ala1362Gly