Canonical Allele Identifier: CA2360293824
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436699C= , CM000682.2:g.32436699C= GRCh38
NC_000020.10:g.31024502C= , CM000682.1:g.31024502C= GRCh37
NC_000020.9:g.30488163C= NCBI36
NG_027868.1:g.83356C= , LRG_630:g.83356C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3987C= MANE Select ENSP00000364839.4:p.Ile1329=
ENST00000646985.1:c.3804C= ENSP00000495053.1:p.Ile1268=
ENST00000647223.1:n.6340C=
ENST00000651418.1:c.1870-1731C= ENSP00000499150.1:n.1870-1731C=
ENST00000306058.9:c.3972C= ENSP00000305119.5:p.Ile1324=
ENST00000375687.8:c.3987C= ENSP00000364839.4:p.Ile1329=
ENST00000613218.4:c.3987C= ENSP00000480487.1:p.Ile1329=
ENST00000620121.4:c.3987C= ENSP00000481978.1:p.Ile1329=
NM_015338.5:c.3987C= , LRG_630t1:c.3987C= NP_056153.2:p.Ile1329=
XM_006723727.2:c.3984C= XP_006723790.1:p.Ile1328=
XM_006723728.2:c.3957C= XP_006723791.1:p.Ile1319=
XM_006723730.2:c.3903C= XP_006723793.1:p.Ile1301=
XM_006723732.2:c.3804C= XP_006723795.1:p.Ile1268=
XM_006723733.1:c.3303C= XP_006723796.1:p.Ile1101=
XM_011528647.1:c.4251C= XP_011526949.1:p.Ile1417=
XM_011528648.1:c.4248C= XP_011526950.1:p.Ile1416=
XM_011528649.1:c.4167C= XP_011526951.1:p.Ile1389=
XM_011528650.1:c.4098C= XP_011526952.1:p.Ile1366=
XM_011528651.1:c.3966C= XP_011526953.1:p.Ile1322=
XM_011528652.1:c.3903C= XP_011526954.1:p.Ile1301=
NM_001363734.1:c.3804C= NP_001350663.1:p.Ile1268=
XM_006723727.3:c.3984C= XP_006723790.1:p.Ile1328=
XM_006723728.3:c.3957C= XP_006723791.1:p.Ile1319=
XM_006723730.4:c.3903C= XP_006723793.1:p.Ile1301=
XM_011528648.3:c.4248C= XP_011526950.1:p.Ile1416=
XM_011528652.2:c.3903C= XP_011526954.1:p.Ile1301=
XM_017027704.1:c.3903C= XP_016883193.1:p.Ile1301=
XM_017027705.1:c.3903C= XP_016883194.1:p.Ile1301=
XM_017027706.1:c.3834C= XP_016883195.1:p.Ile1278=
NM_015338.6:c.3987C= MANE Select NP_056153.2:p.Ile1329=