Canonical Allele Identifier: CA2360293670
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436374C= , CM000682.2:g.32436374C= GRCh38
NC_000020.10:g.31024177C= , CM000682.1:g.31024177C= GRCh37
NC_000020.9:g.30487838C= NCBI36
NG_027868.1:g.83031C= , LRG_630:g.83031C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3662C= MANE Select ENSP00000364839.4:p.Thr1221=
ENST00000646985.1:c.3479C= ENSP00000495053.1:p.Thr1160=
ENST00000647223.1:n.6015C=
ENST00000651418.1:c.1869+1793C= ENSP00000499150.1:n.1869+1793C=
ENST00000306058.9:c.3647C= ENSP00000305119.5:p.Thr1216=
ENST00000375687.8:c.3662C= ENSP00000364839.4:p.Thr1221=
ENST00000613218.4:c.3662C= ENSP00000480487.1:p.Thr1221=
ENST00000620121.4:c.3662C= ENSP00000481978.1:p.Thr1221=
NM_015338.5:c.3662C= , LRG_630t1:c.3662C= NP_056153.2:p.Thr1221=
XM_006723727.2:c.3659C= XP_006723790.1:p.Thr1220=
XM_006723728.2:c.3632C= XP_006723791.1:p.Thr1211=
XM_006723730.2:c.3578C= XP_006723793.1:p.Thr1193=
XM_006723732.2:c.3479C= XP_006723795.1:p.Thr1160=
XM_006723733.1:c.2978C= XP_006723796.1:p.Thr993=
XM_011528647.1:c.3926C= XP_011526949.1:p.Thr1309=
XM_011528648.1:c.3923C= XP_011526950.1:p.Thr1308=
XM_011528649.1:c.3842C= XP_011526951.1:p.Thr1281=
XM_011528650.1:c.3773C= XP_011526952.1:p.Thr1258=
XM_011528651.1:c.3641C= XP_011526953.1:p.Thr1214=
XM_011528652.1:c.3578C= XP_011526954.1:p.Thr1193=
NM_001363734.1:c.3479C= NP_001350663.1:p.Thr1160=
XM_006723727.3:c.3659C= XP_006723790.1:p.Thr1220=
XM_006723728.3:c.3632C= XP_006723791.1:p.Thr1211=
XM_006723730.4:c.3578C= XP_006723793.1:p.Thr1193=
XM_011528648.3:c.3923C= XP_011526950.1:p.Thr1308=
XM_011528652.2:c.3578C= XP_011526954.1:p.Thr1193=
XM_017027704.1:c.3578C= XP_016883193.1:p.Thr1193=
XM_017027705.1:c.3578C= XP_016883194.1:p.Thr1193=
XM_017027706.1:c.3509C= XP_016883195.1:p.Thr1170=
NM_015338.6:c.3662C= MANE Select NP_056153.2:p.Thr1221=