Canonical Allele Identifier: CA408563554
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436386A>C , CM000682.2:g.32436386A>C GRCh38
NC_000020.10:g.31024189A>C , CM000682.1:g.31024189A>C GRCh37
NC_000020.9:g.30487850A>C NCBI36
NG_027868.1:g.83043A>C , LRG_630:g.83043A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3674A>C MANE Select ENSP00000364839.4:p.Lys1225Thr
ENST00000646985.1:c.3491A>C ENSP00000495053.1:p.Lys1164Thr
ENST00000647223.1:n.6027A>C
ENST00000651418.1:c.1869+1805A>C ENSP00000499150.1:n.1869+1805A>C
ENST00000306058.9:c.3659A>C ENSP00000305119.5:p.Lys1220Thr
ENST00000375687.8:c.3674A>C ENSP00000364839.4:p.Lys1225Thr
ENST00000613218.4:c.3674A>C ENSP00000480487.1:p.Lys1225Thr
ENST00000620121.4:c.3674A>C ENSP00000481978.1:p.Lys1225Thr
NM_015338.5:c.3674A>C , LRG_630t1:c.3674A>C NP_056153.2:p.Lys1225Thr
XM_006723727.2:c.3671A>C XP_006723790.1:p.Lys1224Thr
XM_006723728.2:c.3644A>C XP_006723791.1:p.Lys1215Thr
XM_006723730.2:c.3590A>C XP_006723793.1:p.Lys1197Thr
XM_006723732.2:c.3491A>C XP_006723795.1:p.Lys1164Thr
XM_006723733.1:c.2990A>C XP_006723796.1:p.Lys997Thr
XM_011528647.1:c.3938A>C XP_011526949.1:p.Lys1313Thr
XM_011528648.1:c.3935A>C XP_011526950.1:p.Lys1312Thr
XM_011528649.1:c.3854A>C XP_011526951.1:p.Lys1285Thr
XM_011528650.1:c.3785A>C XP_011526952.1:p.Lys1262Thr
XM_011528651.1:c.3653A>C XP_011526953.1:p.Lys1218Thr
XM_011528652.1:c.3590A>C XP_011526954.1:p.Lys1197Thr
NM_001363734.1:c.3491A>C NP_001350663.1:p.Lys1164Thr
XM_006723727.3:c.3671A>C XP_006723790.1:p.Lys1224Thr
XM_006723728.3:c.3644A>C XP_006723791.1:p.Lys1215Thr
XM_006723730.4:c.3590A>C XP_006723793.1:p.Lys1197Thr
XM_011528648.3:c.3935A>C XP_011526950.1:p.Lys1312Thr
XM_011528652.2:c.3590A>C XP_011526954.1:p.Lys1197Thr
XM_017027704.1:c.3590A>C XP_016883193.1:p.Lys1197Thr
XM_017027705.1:c.3590A>C XP_016883194.1:p.Lys1197Thr
XM_017027706.1:c.3521A>C XP_016883195.1:p.Lys1174Thr
NM_015338.6:c.3674A>C MANE Select NP_056153.2:p.Lys1225Thr