Canonical Allele Identifier: CA2360293788
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436615G= , CM000682.2:g.32436615G= GRCh38
NC_000020.10:g.31024418G= , CM000682.1:g.31024418G= GRCh37
NC_000020.9:g.30488079G= NCBI36
NG_027868.1:g.83272G= , LRG_630:g.83272G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3903G= MANE Select ENSP00000364839.4:p.Gly1301=
ENST00000646985.1:c.3720G= ENSP00000495053.1:p.Gly1240=
ENST00000647223.1:n.6256G=
ENST00000651418.1:c.1870-1815G= ENSP00000499150.1:n.1870-1815G=
ENST00000306058.9:c.3888G= ENSP00000305119.5:p.Gly1296=
ENST00000375687.8:c.3903G= ENSP00000364839.4:p.Gly1301=
ENST00000613218.4:c.3903G= ENSP00000480487.1:p.Gly1301=
ENST00000620121.4:c.3903G= ENSP00000481978.1:p.Gly1301=
NM_015338.5:c.3903G= , LRG_630t1:c.3903G= NP_056153.2:p.Gly1301=
XM_006723727.2:c.3900G= XP_006723790.1:p.Gly1300=
XM_006723728.2:c.3873G= XP_006723791.1:p.Gly1291=
XM_006723730.2:c.3819G= XP_006723793.1:p.Gly1273=
XM_006723732.2:c.3720G= XP_006723795.1:p.Gly1240=
XM_006723733.1:c.3219G= XP_006723796.1:p.Gly1073=
XM_011528647.1:c.4167G= XP_011526949.1:p.Gly1389=
XM_011528648.1:c.4164G= XP_011526950.1:p.Gly1388=
XM_011528649.1:c.4083G= XP_011526951.1:p.Gly1361=
XM_011528650.1:c.4014G= XP_011526952.1:p.Gly1338=
XM_011528651.1:c.3882G= XP_011526953.1:p.Gly1294=
XM_011528652.1:c.3819G= XP_011526954.1:p.Gly1273=
NM_001363734.1:c.3720G= NP_001350663.1:p.Gly1240=
XM_006723727.3:c.3900G= XP_006723790.1:p.Gly1300=
XM_006723728.3:c.3873G= XP_006723791.1:p.Gly1291=
XM_006723730.4:c.3819G= XP_006723793.1:p.Gly1273=
XM_011528648.3:c.4164G= XP_011526950.1:p.Gly1388=
XM_011528652.2:c.3819G= XP_011526954.1:p.Gly1273=
XM_017027704.1:c.3819G= XP_016883193.1:p.Gly1273=
XM_017027705.1:c.3819G= XP_016883194.1:p.Gly1273=
XM_017027706.1:c.3750G= XP_016883195.1:p.Gly1250=
NM_015338.6:c.3903G= MANE Select NP_056153.2:p.Gly1301=