Canonical Allele Identifier: CA408563564
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436392A>G , CM000682.2:g.32436392A>G GRCh38
NC_000020.10:g.31024195A>G , CM000682.1:g.31024195A>G GRCh37
NC_000020.9:g.30487856A>G NCBI36
NG_027868.1:g.83049A>G , LRG_630:g.83049A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3680A>G MANE Select ENSP00000364839.4:p.Glu1227Gly
ENST00000646985.1:c.3497A>G ENSP00000495053.1:p.Glu1166Gly
ENST00000647223.1:n.6033A>G
ENST00000651418.1:c.1869+1811A>G ENSP00000499150.1:n.1869+1811A>G
ENST00000306058.9:c.3665A>G ENSP00000305119.5:p.Glu1222Gly
ENST00000375687.8:c.3680A>G ENSP00000364839.4:p.Glu1227Gly
ENST00000613218.4:c.3680A>G ENSP00000480487.1:p.Glu1227Gly
ENST00000620121.4:c.3680A>G ENSP00000481978.1:p.Glu1227Gly
NM_015338.5:c.3680A>G , LRG_630t1:c.3680A>G NP_056153.2:p.Glu1227Gly
XM_006723727.2:c.3677A>G XP_006723790.1:p.Glu1226Gly
XM_006723728.2:c.3650A>G XP_006723791.1:p.Glu1217Gly
XM_006723730.2:c.3596A>G XP_006723793.1:p.Glu1199Gly
XM_006723732.2:c.3497A>G XP_006723795.1:p.Glu1166Gly
XM_006723733.1:c.2996A>G XP_006723796.1:p.Glu999Gly
XM_011528647.1:c.3944A>G XP_011526949.1:p.Glu1315Gly
XM_011528648.1:c.3941A>G XP_011526950.1:p.Glu1314Gly
XM_011528649.1:c.3860A>G XP_011526951.1:p.Glu1287Gly
XM_011528650.1:c.3791A>G XP_011526952.1:p.Glu1264Gly
XM_011528651.1:c.3659A>G XP_011526953.1:p.Glu1220Gly
XM_011528652.1:c.3596A>G XP_011526954.1:p.Glu1199Gly
NM_001363734.1:c.3497A>G NP_001350663.1:p.Glu1166Gly
XM_006723727.3:c.3677A>G XP_006723790.1:p.Glu1226Gly
XM_006723728.3:c.3650A>G XP_006723791.1:p.Glu1217Gly
XM_006723730.4:c.3596A>G XP_006723793.1:p.Glu1199Gly
XM_011528648.3:c.3941A>G XP_011526950.1:p.Glu1314Gly
XM_011528652.2:c.3596A>G XP_011526954.1:p.Glu1199Gly
XM_017027704.1:c.3596A>G XP_016883193.1:p.Glu1199Gly
XM_017027705.1:c.3596A>G XP_016883194.1:p.Glu1199Gly
XM_017027706.1:c.3527A>G XP_016883195.1:p.Glu1176Gly
NM_015338.6:c.3680A>G MANE Select NP_056153.2:p.Glu1227Gly