Canonical Allele Identifier: CA408563300
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436262A>T , CM000682.2:g.32436262A>T GRCh38
NC_000020.10:g.31024065A>T , CM000682.1:g.31024065A>T GRCh37
NC_000020.9:g.30487726A>T NCBI36
NG_027868.1:g.82919A>T , LRG_630:g.82919A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3550A>T MANE Select ENSP00000364839.4:p.Thr1184Ser
ENST00000646985.1:c.3367A>T ENSP00000495053.1:p.Thr1123Ser
ENST00000647223.1:n.5903A>T
ENST00000651418.1:c.1869+1681A>T ENSP00000499150.1:n.1869+1681A>T
ENST00000306058.9:c.3535A>T ENSP00000305119.5:p.Thr1179Ser
ENST00000375687.8:c.3550A>T ENSP00000364839.4:p.Thr1184Ser
ENST00000613218.4:c.3550A>T ENSP00000480487.1:p.Thr1184Ser
ENST00000620121.4:c.3550A>T ENSP00000481978.1:p.Thr1184Ser
NM_015338.5:c.3550A>T , LRG_630t1:c.3550A>T NP_056153.2:p.Thr1184Ser
XM_006723727.2:c.3547A>T XP_006723790.1:p.Thr1183Ser
XM_006723728.2:c.3520A>T XP_006723791.1:p.Thr1174Ser
XM_006723730.2:c.3466A>T XP_006723793.1:p.Thr1156Ser
XM_006723732.2:c.3367A>T XP_006723795.1:p.Thr1123Ser
XM_006723733.1:c.2866A>T XP_006723796.1:p.Thr956Ser
XM_011528647.1:c.3814A>T XP_011526949.1:p.Thr1272Ser
XM_011528648.1:c.3811A>T XP_011526950.1:p.Thr1271Ser
XM_011528649.1:c.3730A>T XP_011526951.1:p.Thr1244Ser
XM_011528650.1:c.3661A>T XP_011526952.1:p.Thr1221Ser
XM_011528651.1:c.3529A>T XP_011526953.1:p.Thr1177Ser
XM_011528652.1:c.3466A>T XP_011526954.1:p.Thr1156Ser
NM_001363734.1:c.3367A>T NP_001350663.1:p.Thr1123Ser
XM_006723727.3:c.3547A>T XP_006723790.1:p.Thr1183Ser
XM_006723728.3:c.3520A>T XP_006723791.1:p.Thr1174Ser
XM_006723730.4:c.3466A>T XP_006723793.1:p.Thr1156Ser
XM_011528648.3:c.3811A>T XP_011526950.1:p.Thr1271Ser
XM_011528652.2:c.3466A>T XP_011526954.1:p.Thr1156Ser
XM_017027704.1:c.3466A>T XP_016883193.1:p.Thr1156Ser
XM_017027705.1:c.3466A>T XP_016883194.1:p.Thr1156Ser
XM_017027706.1:c.3397A>T XP_016883195.1:p.Thr1133Ser
NM_015338.6:c.3550A>T MANE Select NP_056153.2:p.Thr1184Ser