Canonical Allele Identifier: CA408563834
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436515C>G , CM000682.2:g.32436515C>G GRCh38
NC_000020.10:g.31024318C>G , CM000682.1:g.31024318C>G GRCh37
NC_000020.9:g.30487979C>G NCBI36
NG_027868.1:g.83172C>G , LRG_630:g.83172C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3803C>G MANE Select ENSP00000364839.4:p.Thr1268Ser
ENST00000646985.1:c.3620C>G ENSP00000495053.1:p.Thr1207Ser
ENST00000647223.1:n.6156C>G
ENST00000651418.1:c.1870-1915C>G ENSP00000499150.1:n.1870-1915C>G
ENST00000306058.9:c.3788C>G ENSP00000305119.5:p.Thr1263Ser
ENST00000375687.8:c.3803C>G ENSP00000364839.4:p.Thr1268Ser
ENST00000613218.4:c.3803C>G ENSP00000480487.1:p.Thr1268Ser
ENST00000620121.4:c.3803C>G ENSP00000481978.1:p.Thr1268Ser
NM_015338.5:c.3803C>G , LRG_630t1:c.3803C>G NP_056153.2:p.Thr1268Ser
XM_006723727.2:c.3800C>G XP_006723790.1:p.Thr1267Ser
XM_006723728.2:c.3773C>G XP_006723791.1:p.Thr1258Ser
XM_006723730.2:c.3719C>G XP_006723793.1:p.Thr1240Ser
XM_006723732.2:c.3620C>G XP_006723795.1:p.Thr1207Ser
XM_006723733.1:c.3119C>G XP_006723796.1:p.Thr1040Ser
XM_011528647.1:c.4067C>G XP_011526949.1:p.Thr1356Ser
XM_011528648.1:c.4064C>G XP_011526950.1:p.Thr1355Ser
XM_011528649.1:c.3983C>G XP_011526951.1:p.Thr1328Ser
XM_011528650.1:c.3914C>G XP_011526952.1:p.Thr1305Ser
XM_011528651.1:c.3782C>G XP_011526953.1:p.Thr1261Ser
XM_011528652.1:c.3719C>G XP_011526954.1:p.Thr1240Ser
NM_001363734.1:c.3620C>G NP_001350663.1:p.Thr1207Ser
XM_006723727.3:c.3800C>G XP_006723790.1:p.Thr1267Ser
XM_006723728.3:c.3773C>G XP_006723791.1:p.Thr1258Ser
XM_006723730.4:c.3719C>G XP_006723793.1:p.Thr1240Ser
XM_011528648.3:c.4064C>G XP_011526950.1:p.Thr1355Ser
XM_011528652.2:c.3719C>G XP_011526954.1:p.Thr1240Ser
XM_017027704.1:c.3719C>G XP_016883193.1:p.Thr1240Ser
XM_017027705.1:c.3719C>G XP_016883194.1:p.Thr1240Ser
XM_017027706.1:c.3650C>G XP_016883195.1:p.Thr1217Ser
NM_015338.6:c.3803C>G MANE Select NP_056153.2:p.Thr1268Ser