Canonical Allele Identifier: CA9808184
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32431221C>T , CM000682.2:g.32431221C>T GRCh38
NC_000020.10:g.31019024C>T , CM000682.1:g.31019024C>T GRCh37
NC_000020.9:g.30482685C>T NCBI36
NG_027868.1:g.77878C>T , LRG_630:g.77878C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015338.6:c.719-100C>T MANE Select NP_056153.2:n.719-100C>T
ENST00000375687.10:c.719-100C>T MANE Select ENSP00000364839.4:n.719-100C>T
NM_001363734.1:c.536-100C>T NP_001350663.1:n.536-100C>T
NM_015338.5:c.719-100C>T , LRG_630t1:c.719-100C>T NP_056153.2:n.719-100C>T
ENST00000306058.9:c.704-100C>T ENSP00000305119.5:n.704-100C>T
ENST00000375687.8:c.719-100C>T ENSP00000364839.4:n.719-100C>T
ENST00000553345.5:n.315+45C>T
ENST00000555564.1:n.205C>T
ENST00000555564.2:n.173-100C>T
ENST00000613218.4:c.719-100C>T ENSP00000480487.1:n.719-100C>T
ENST00000619344.4:n.315-100C>T
ENST00000620121.4:c.719-100C>T ENSP00000481978.1:n.719-100C>T
ENST00000646985.1:c.536-100C>T ENSP00000495053.1:n.536-100C>T
ENST00000647223.1:n.2458C>T
ENST00000651418.1:c.719-100C>T ENSP00000499150.1:n.719-100C>T
XM_006723727.2:c.716-100C>T XP_006723790.1:n.716-100C>T
XM_006723727.3:c.716-100C>T XP_006723790.1:n.716-100C>T
XM_006723728.2:c.689-100C>T XP_006723791.1:n.689-100C>T
XM_006723728.3:c.689-100C>T XP_006723791.1:n.689-100C>T
XM_006723730.2:c.635-100C>T XP_006723793.1:n.635-100C>T
XM_006723730.4:c.635-100C>T XP_006723793.1:n.635-100C>T
XM_006723732.2:c.536-100C>T XP_006723795.1:n.536-100C>T
XM_006723733.1:c.34+45C>T XP_006723796.1:n.34+45C>T
XM_011528647.1:c.983-100C>T XP_011526949.1:n.983-100C>T
XM_011528648.1:c.980-100C>T XP_011526950.1:n.980-100C>T
XM_011528648.3:c.980-100C>T XP_011526950.1:n.980-100C>T
XM_011528649.1:c.899-100C>T XP_011526951.1:n.899-100C>T
XM_011528650.1:c.830-100C>T XP_011526952.1:n.830-100C>T
XM_011528651.1:c.698-100C>T XP_011526953.1:n.698-100C>T
XM_011528652.1:c.635-100C>T XP_011526954.1:n.635-100C>T
XM_011528652.2:c.635-100C>T XP_011526954.1:n.635-100C>T
XM_017027704.1:c.635-100C>T XP_016883193.1:n.635-100C>T
XM_017027705.1:c.635-100C>T XP_016883194.1:n.635-100C>T
XM_017027706.1:c.566-100C>T XP_016883195.1:n.566-100C>T