Canonical Allele Identifier: CA2360293619
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436270T= , CM000682.2:g.32436270T= GRCh38
NC_000020.10:g.31024073T= , CM000682.1:g.31024073T= GRCh37
NC_000020.9:g.30487734T= NCBI36
NG_027868.1:g.82927T= , LRG_630:g.82927T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3558T= MANE Select ENSP00000364839.4:p.Thr1186=
ENST00000646985.1:c.3375T= ENSP00000495053.1:p.Thr1125=
ENST00000647223.1:n.5911T=
ENST00000651418.1:c.1869+1689T= ENSP00000499150.1:n.1869+1689T=
ENST00000306058.9:c.3543T= ENSP00000305119.5:p.Thr1181=
ENST00000375687.8:c.3558T= ENSP00000364839.4:p.Thr1186=
ENST00000613218.4:c.3558T= ENSP00000480487.1:p.Thr1186=
ENST00000620121.4:c.3558T= ENSP00000481978.1:p.Thr1186=
NM_015338.5:c.3558T= , LRG_630t1:c.3558T= NP_056153.2:p.Thr1186=
XM_006723727.2:c.3555T= XP_006723790.1:p.Thr1185=
XM_006723728.2:c.3528T= XP_006723791.1:p.Thr1176=
XM_006723730.2:c.3474T= XP_006723793.1:p.Thr1158=
XM_006723732.2:c.3375T= XP_006723795.1:p.Thr1125=
XM_006723733.1:c.2874T= XP_006723796.1:p.Thr958=
XM_011528647.1:c.3822T= XP_011526949.1:p.Thr1274=
XM_011528648.1:c.3819T= XP_011526950.1:p.Thr1273=
XM_011528649.1:c.3738T= XP_011526951.1:p.Thr1246=
XM_011528650.1:c.3669T= XP_011526952.1:p.Thr1223=
XM_011528651.1:c.3537T= XP_011526953.1:p.Thr1179=
XM_011528652.1:c.3474T= XP_011526954.1:p.Thr1158=
NM_001363734.1:c.3375T= NP_001350663.1:p.Thr1125=
XM_006723727.3:c.3555T= XP_006723790.1:p.Thr1185=
XM_006723728.3:c.3528T= XP_006723791.1:p.Thr1176=
XM_006723730.4:c.3474T= XP_006723793.1:p.Thr1158=
XM_011528648.3:c.3819T= XP_011526950.1:p.Thr1273=
XM_011528652.2:c.3474T= XP_011526954.1:p.Thr1158=
XM_017027704.1:c.3474T= XP_016883193.1:p.Thr1158=
XM_017027705.1:c.3474T= XP_016883194.1:p.Thr1158=
XM_017027706.1:c.3405T= XP_016883195.1:p.Thr1135=
NM_015338.6:c.3558T= MANE Select NP_056153.2:p.Thr1186=