Canonical Allele Identifier: CA408563529
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436373A>T , CM000682.2:g.32436373A>T GRCh38
NC_000020.10:g.31024176A>T , CM000682.1:g.31024176A>T GRCh37
NC_000020.9:g.30487837A>T NCBI36
NG_027868.1:g.83030A>T , LRG_630:g.83030A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3661A>T MANE Select ENSP00000364839.4:p.Thr1221Ser
ENST00000646985.1:c.3478A>T ENSP00000495053.1:p.Thr1160Ser
ENST00000647223.1:n.6014A>T
ENST00000651418.1:c.1869+1792A>T ENSP00000499150.1:n.1869+1792A>T
ENST00000306058.9:c.3646A>T ENSP00000305119.5:p.Thr1216Ser
ENST00000375687.8:c.3661A>T ENSP00000364839.4:p.Thr1221Ser
ENST00000613218.4:c.3661A>T ENSP00000480487.1:p.Thr1221Ser
ENST00000620121.4:c.3661A>T ENSP00000481978.1:p.Thr1221Ser
NM_015338.5:c.3661A>T , LRG_630t1:c.3661A>T NP_056153.2:p.Thr1221Ser
XM_006723727.2:c.3658A>T XP_006723790.1:p.Thr1220Ser
XM_006723728.2:c.3631A>T XP_006723791.1:p.Thr1211Ser
XM_006723730.2:c.3577A>T XP_006723793.1:p.Thr1193Ser
XM_006723732.2:c.3478A>T XP_006723795.1:p.Thr1160Ser
XM_006723733.1:c.2977A>T XP_006723796.1:p.Thr993Ser
XM_011528647.1:c.3925A>T XP_011526949.1:p.Thr1309Ser
XM_011528648.1:c.3922A>T XP_011526950.1:p.Thr1308Ser
XM_011528649.1:c.3841A>T XP_011526951.1:p.Thr1281Ser
XM_011528650.1:c.3772A>T XP_011526952.1:p.Thr1258Ser
XM_011528651.1:c.3640A>T XP_011526953.1:p.Thr1214Ser
XM_011528652.1:c.3577A>T XP_011526954.1:p.Thr1193Ser
NM_001363734.1:c.3478A>T NP_001350663.1:p.Thr1160Ser
XM_006723727.3:c.3658A>T XP_006723790.1:p.Thr1220Ser
XM_006723728.3:c.3631A>T XP_006723791.1:p.Thr1211Ser
XM_006723730.4:c.3577A>T XP_006723793.1:p.Thr1193Ser
XM_011528648.3:c.3922A>T XP_011526950.1:p.Thr1308Ser
XM_011528652.2:c.3577A>T XP_011526954.1:p.Thr1193Ser
XM_017027704.1:c.3577A>T XP_016883193.1:p.Thr1193Ser
XM_017027705.1:c.3577A>T XP_016883194.1:p.Thr1193Ser
XM_017027706.1:c.3508A>T XP_016883195.1:p.Thr1170Ser
NM_015338.6:c.3661A>T MANE Select NP_056153.2:p.Thr1221Ser