Canonical Allele Identifier: CA408562619
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435940C>G , CM000682.2:g.32435940C>G GRCh38
NC_000020.10:g.31023743C>G , CM000682.1:g.31023743C>G GRCh37
NC_000020.9:g.30487404C>G NCBI36
NG_027868.1:g.82597C>G , LRG_630:g.82597C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3228C>G MANE Select ENSP00000364839.4:p.Ile1076Met
ENST00000646985.1:c.3045C>G ENSP00000495053.1:p.Ile1015Met
ENST00000647223.1:n.5581C>G
ENST00000651418.1:c.1869+1359C>G ENSP00000499150.1:n.1869+1359C>G
ENST00000306058.9:c.3213C>G ENSP00000305119.5:p.Ile1071Met
ENST00000375687.8:c.3228C>G ENSP00000364839.4:p.Ile1076Met
ENST00000613218.4:c.3228C>G ENSP00000480487.1:p.Ile1076Met
ENST00000620121.4:c.3228C>G ENSP00000481978.1:p.Ile1076Met
NM_015338.5:c.3228C>G , LRG_630t1:c.3228C>G NP_056153.2:p.Ile1076Met
XM_006723727.2:c.3225C>G XP_006723790.1:p.Ile1075Met
XM_006723728.2:c.3198C>G XP_006723791.1:p.Ile1066Met
XM_006723730.2:c.3144C>G XP_006723793.1:p.Ile1048Met
XM_006723732.2:c.3045C>G XP_006723795.1:p.Ile1015Met
XM_006723733.1:c.2544C>G XP_006723796.1:p.Ile848Met
XM_011528647.1:c.3492C>G XP_011526949.1:p.Ile1164Met
XM_011528648.1:c.3489C>G XP_011526950.1:p.Ile1163Met
XM_011528649.1:c.3408C>G XP_011526951.1:p.Ile1136Met
XM_011528650.1:c.3339C>G XP_011526952.1:p.Ile1113Met
XM_011528651.1:c.3207C>G XP_011526953.1:p.Ile1069Met
XM_011528652.1:c.3144C>G XP_011526954.1:p.Ile1048Met
NM_001363734.1:c.3045C>G NP_001350663.1:p.Ile1015Met
XM_006723727.3:c.3225C>G XP_006723790.1:p.Ile1075Met
XM_006723728.3:c.3198C>G XP_006723791.1:p.Ile1066Met
XM_006723730.4:c.3144C>G XP_006723793.1:p.Ile1048Met
XM_011528648.3:c.3489C>G XP_011526950.1:p.Ile1163Met
XM_011528652.2:c.3144C>G XP_011526954.1:p.Ile1048Met
XM_017027704.1:c.3144C>G XP_016883193.1:p.Ile1048Met
XM_017027705.1:c.3144C>G XP_016883194.1:p.Ile1048Met
XM_017027706.1:c.3075C>G XP_016883195.1:p.Ile1025Met
NM_015338.6:c.3228C>G MANE Select NP_056153.2:p.Ile1076Met