Canonical Allele Identifier: CA408551416
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428168A>G , CM000682.2:g.32428168A>G GRCh38
NC_000020.10:g.31015971A>G , CM000682.1:g.31015971A>G GRCh37
NC_000020.9:g.30479632A>G NCBI36
NG_027868.1:g.74825A>G , LRG_630:g.74825A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.293A>G MANE Select ENSP00000364839.4:p.Glu98Gly
ENST00000470145.3:n.236A>G
ENST00000643168.1:c.209A>G ENSP00000495003.1:p.Glu70Gly
ENST00000644060.1:n.1097A>G
ENST00000644587.1:c.*132A>G ENSP00000494813.1:n.*132A>G
ENST00000645514.1:n.41A>G
ENST00000645688.1:c.209A>G ENSP00000495488.1:p.Glu70Gly
ENST00000646985.1:c.263A>G ENSP00000495053.1:p.Glu88Gly
ENST00000651418.1:c.293A>G ENSP00000499150.1:p.Glu98Gly
ENST00000306058.9:c.278A>G ENSP00000305119.5:p.Glu93Gly
ENST00000375687.8:c.293A>G ENSP00000364839.4:p.Glu98Gly
ENST00000470145.2:n.236A>G
ENST00000613218.4:c.293A>G ENSP00000480487.1:p.Glu98Gly
ENST00000620121.4:c.293A>G ENSP00000481978.1:p.Glu98Gly
NM_015338.5:c.293A>G , LRG_630t1:c.293A>G NP_056153.2:p.Glu98Gly
XM_006723727.2:c.290A>G XP_006723790.1:p.Glu97Gly
XM_006723728.2:c.263A>G XP_006723791.1:p.Glu88Gly
XM_006723730.2:c.209A>G XP_006723793.1:p.Glu70Gly
XM_006723732.2:c.263A>G XP_006723795.1:p.Glu88Gly
XM_011528647.1:c.557A>G XP_011526949.1:p.Glu186Gly
XM_011528648.1:c.554A>G XP_011526950.1:p.Glu185Gly
XM_011528649.1:c.473A>G XP_011526951.1:p.Glu158Gly
XM_011528650.1:c.557A>G XP_011526952.1:p.Glu186Gly
XM_011528651.1:c.272A>G XP_011526953.1:p.Glu91Gly
XM_011528652.1:c.209A>G XP_011526954.1:p.Glu70Gly
NM_001363734.1:c.263A>G NP_001350663.1:p.Glu88Gly
XM_006723727.3:c.290A>G XP_006723790.1:p.Glu97Gly
XM_006723728.3:c.263A>G XP_006723791.1:p.Glu88Gly
XM_006723730.4:c.209A>G XP_006723793.1:p.Glu70Gly
XM_011528648.3:c.554A>G XP_011526950.1:p.Glu185Gly
XM_011528652.2:c.209A>G XP_011526954.1:p.Glu70Gly
XM_017027704.1:c.209A>G XP_016883193.1:p.Glu70Gly
XM_017027705.1:c.209A>G XP_016883194.1:p.Glu70Gly
XM_017027706.1:c.293A>G XP_016883195.1:p.Glu98Gly
NM_015338.6:c.293A>G MANE Select NP_056153.2:p.Glu98Gly