Canonical Allele Identifier: CA408563375
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436301C>A , CM000682.2:g.32436301C>A GRCh38
NC_000020.10:g.31024104C>A , CM000682.1:g.31024104C>A GRCh37
NC_000020.9:g.30487765C>A NCBI36
NG_027868.1:g.82958C>A , LRG_630:g.82958C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3589C>A MANE Select ENSP00000364839.4:p.Pro1197Thr
ENST00000646985.1:c.3406C>A ENSP00000495053.1:p.Pro1136Thr
ENST00000647223.1:n.5942C>A
ENST00000651418.1:c.1869+1720C>A ENSP00000499150.1:n.1869+1720C>A
ENST00000306058.9:c.3574C>A ENSP00000305119.5:p.Pro1192Thr
ENST00000375687.8:c.3589C>A ENSP00000364839.4:p.Pro1197Thr
ENST00000613218.4:c.3589C>A ENSP00000480487.1:p.Pro1197Thr
ENST00000620121.4:c.3589C>A ENSP00000481978.1:p.Pro1197Thr
NM_015338.5:c.3589C>A , LRG_630t1:c.3589C>A NP_056153.2:p.Pro1197Thr
XM_006723727.2:c.3586C>A XP_006723790.1:p.Pro1196Thr
XM_006723728.2:c.3559C>A XP_006723791.1:p.Pro1187Thr
XM_006723730.2:c.3505C>A XP_006723793.1:p.Pro1169Thr
XM_006723732.2:c.3406C>A XP_006723795.1:p.Pro1136Thr
XM_006723733.1:c.2905C>A XP_006723796.1:p.Pro969Thr
XM_011528647.1:c.3853C>A XP_011526949.1:p.Pro1285Thr
XM_011528648.1:c.3850C>A XP_011526950.1:p.Pro1284Thr
XM_011528649.1:c.3769C>A XP_011526951.1:p.Pro1257Thr
XM_011528650.1:c.3700C>A XP_011526952.1:p.Pro1234Thr
XM_011528651.1:c.3568C>A XP_011526953.1:p.Pro1190Thr
XM_011528652.1:c.3505C>A XP_011526954.1:p.Pro1169Thr
NM_001363734.1:c.3406C>A NP_001350663.1:p.Pro1136Thr
XM_006723727.3:c.3586C>A XP_006723790.1:p.Pro1196Thr
XM_006723728.3:c.3559C>A XP_006723791.1:p.Pro1187Thr
XM_006723730.4:c.3505C>A XP_006723793.1:p.Pro1169Thr
XM_011528648.3:c.3850C>A XP_011526950.1:p.Pro1284Thr
XM_011528652.2:c.3505C>A XP_011526954.1:p.Pro1169Thr
XM_017027704.1:c.3505C>A XP_016883193.1:p.Pro1169Thr
XM_017027705.1:c.3505C>A XP_016883194.1:p.Pro1169Thr
XM_017027706.1:c.3436C>A XP_016883195.1:p.Pro1146Thr
NM_015338.6:c.3589C>A MANE Select NP_056153.2:p.Pro1197Thr