Canonical Allele Identifier: CA408563640
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436425T>A , CM000682.2:g.32436425T>A GRCh38
NC_000020.10:g.31024228T>A , CM000682.1:g.31024228T>A GRCh37
NC_000020.9:g.30487889T>A NCBI36
NG_027868.1:g.83082T>A , LRG_630:g.83082T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3713T>A MANE Select ENSP00000364839.4:p.Phe1238Tyr
ENST00000646985.1:c.3530T>A ENSP00000495053.1:p.Phe1177Tyr
ENST00000647223.1:n.6066T>A
ENST00000651418.1:c.1869+1844T>A ENSP00000499150.1:n.1869+1844T>A
ENST00000306058.9:c.3698T>A ENSP00000305119.5:p.Phe1233Tyr
ENST00000375687.8:c.3713T>A ENSP00000364839.4:p.Phe1238Tyr
ENST00000613218.4:c.3713T>A ENSP00000480487.1:p.Phe1238Tyr
ENST00000620121.4:c.3713T>A ENSP00000481978.1:p.Phe1238Tyr
NM_015338.5:c.3713T>A , LRG_630t1:c.3713T>A NP_056153.2:p.Phe1238Tyr
XM_006723727.2:c.3710T>A XP_006723790.1:p.Phe1237Tyr
XM_006723728.2:c.3683T>A XP_006723791.1:p.Phe1228Tyr
XM_006723730.2:c.3629T>A XP_006723793.1:p.Phe1210Tyr
XM_006723732.2:c.3530T>A XP_006723795.1:p.Phe1177Tyr
XM_006723733.1:c.3029T>A XP_006723796.1:p.Phe1010Tyr
XM_011528647.1:c.3977T>A XP_011526949.1:p.Phe1326Tyr
XM_011528648.1:c.3974T>A XP_011526950.1:p.Phe1325Tyr
XM_011528649.1:c.3893T>A XP_011526951.1:p.Phe1298Tyr
XM_011528650.1:c.3824T>A XP_011526952.1:p.Phe1275Tyr
XM_011528651.1:c.3692T>A XP_011526953.1:p.Phe1231Tyr
XM_011528652.1:c.3629T>A XP_011526954.1:p.Phe1210Tyr
NM_001363734.1:c.3530T>A NP_001350663.1:p.Phe1177Tyr
XM_006723727.3:c.3710T>A XP_006723790.1:p.Phe1237Tyr
XM_006723728.3:c.3683T>A XP_006723791.1:p.Phe1228Tyr
XM_006723730.4:c.3629T>A XP_006723793.1:p.Phe1210Tyr
XM_011528648.3:c.3974T>A XP_011526950.1:p.Phe1325Tyr
XM_011528652.2:c.3629T>A XP_011526954.1:p.Phe1210Tyr
XM_017027704.1:c.3629T>A XP_016883193.1:p.Phe1210Tyr
XM_017027705.1:c.3629T>A XP_016883194.1:p.Phe1210Tyr
XM_017027706.1:c.3560T>A XP_016883195.1:p.Phe1187Tyr
NM_015338.6:c.3713T>A MANE Select NP_056153.2:p.Phe1238Tyr