Canonical Allele Identifier: CA408564071
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436632C>A , CM000682.2:g.32436632C>A GRCh38
NC_000020.10:g.31024435C>A , CM000682.1:g.31024435C>A GRCh37
NC_000020.9:g.30488096C>A NCBI36
NG_027868.1:g.83289C>A , LRG_630:g.83289C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3920C>A MANE Select ENSP00000364839.4:p.Ser1307Tyr
ENST00000646985.1:c.3737C>A ENSP00000495053.1:p.Ser1246Tyr
ENST00000647223.1:n.6273C>A
ENST00000651418.1:c.1870-1798C>A ENSP00000499150.1:n.1870-1798C>A
ENST00000306058.9:c.3905C>A ENSP00000305119.5:p.Ser1302Tyr
ENST00000375687.8:c.3920C>A ENSP00000364839.4:p.Ser1307Tyr
ENST00000613218.4:c.3920C>A ENSP00000480487.1:p.Ser1307Tyr
ENST00000620121.4:c.3920C>A ENSP00000481978.1:p.Ser1307Tyr
NM_015338.5:c.3920C>A , LRG_630t1:c.3920C>A NP_056153.2:p.Ser1307Tyr
XM_006723727.2:c.3917C>A XP_006723790.1:p.Ser1306Tyr
XM_006723728.2:c.3890C>A XP_006723791.1:p.Ser1297Tyr
XM_006723730.2:c.3836C>A XP_006723793.1:p.Ser1279Tyr
XM_006723732.2:c.3737C>A XP_006723795.1:p.Ser1246Tyr
XM_006723733.1:c.3236C>A XP_006723796.1:p.Ser1079Tyr
XM_011528647.1:c.4184C>A XP_011526949.1:p.Ser1395Tyr
XM_011528648.1:c.4181C>A XP_011526950.1:p.Ser1394Tyr
XM_011528649.1:c.4100C>A XP_011526951.1:p.Ser1367Tyr
XM_011528650.1:c.4031C>A XP_011526952.1:p.Ser1344Tyr
XM_011528651.1:c.3899C>A XP_011526953.1:p.Ser1300Tyr
XM_011528652.1:c.3836C>A XP_011526954.1:p.Ser1279Tyr
NM_001363734.1:c.3737C>A NP_001350663.1:p.Ser1246Tyr
XM_006723727.3:c.3917C>A XP_006723790.1:p.Ser1306Tyr
XM_006723728.3:c.3890C>A XP_006723791.1:p.Ser1297Tyr
XM_006723730.4:c.3836C>A XP_006723793.1:p.Ser1279Tyr
XM_011528648.3:c.4181C>A XP_011526950.1:p.Ser1394Tyr
XM_011528652.2:c.3836C>A XP_011526954.1:p.Ser1279Tyr
XM_017027704.1:c.3836C>A XP_016883193.1:p.Ser1279Tyr
XM_017027705.1:c.3836C>A XP_016883194.1:p.Ser1279Tyr
XM_017027706.1:c.3767C>A XP_016883195.1:p.Ser1256Tyr
NM_015338.6:c.3920C>A MANE Select NP_056153.2:p.Ser1307Tyr