Canonical Allele Identifier: CA408563384
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436305G>C , CM000682.2:g.32436305G>C GRCh38
NC_000020.10:g.31024108G>C , CM000682.1:g.31024108G>C GRCh37
NC_000020.9:g.30487769G>C NCBI36
NG_027868.1:g.82962G>C , LRG_630:g.82962G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3593G>C MANE Select ENSP00000364839.4:p.Gly1198Ala
ENST00000646985.1:c.3410G>C ENSP00000495053.1:p.Gly1137Ala
ENST00000647223.1:n.5946G>C
ENST00000651418.1:c.1869+1724G>C ENSP00000499150.1:n.1869+1724G>C
ENST00000306058.9:c.3578G>C ENSP00000305119.5:p.Gly1193Ala
ENST00000375687.8:c.3593G>C ENSP00000364839.4:p.Gly1198Ala
ENST00000613218.4:c.3593G>C ENSP00000480487.1:p.Gly1198Ala
ENST00000620121.4:c.3593G>C ENSP00000481978.1:p.Gly1198Ala
NM_015338.5:c.3593G>C , LRG_630t1:c.3593G>C NP_056153.2:p.Gly1198Ala
XM_006723727.2:c.3590G>C XP_006723790.1:p.Gly1197Ala
XM_006723728.2:c.3563G>C XP_006723791.1:p.Gly1188Ala
XM_006723730.2:c.3509G>C XP_006723793.1:p.Gly1170Ala
XM_006723732.2:c.3410G>C XP_006723795.1:p.Gly1137Ala
XM_006723733.1:c.2909G>C XP_006723796.1:p.Gly970Ala
XM_011528647.1:c.3857G>C XP_011526949.1:p.Gly1286Ala
XM_011528648.1:c.3854G>C XP_011526950.1:p.Gly1285Ala
XM_011528649.1:c.3773G>C XP_011526951.1:p.Gly1258Ala
XM_011528650.1:c.3704G>C XP_011526952.1:p.Gly1235Ala
XM_011528651.1:c.3572G>C XP_011526953.1:p.Gly1191Ala
XM_011528652.1:c.3509G>C XP_011526954.1:p.Gly1170Ala
NM_001363734.1:c.3410G>C NP_001350663.1:p.Gly1137Ala
XM_006723727.3:c.3590G>C XP_006723790.1:p.Gly1197Ala
XM_006723728.3:c.3563G>C XP_006723791.1:p.Gly1188Ala
XM_006723730.4:c.3509G>C XP_006723793.1:p.Gly1170Ala
XM_011528648.3:c.3854G>C XP_011526950.1:p.Gly1285Ala
XM_011528652.2:c.3509G>C XP_011526954.1:p.Gly1170Ala
XM_017027704.1:c.3509G>C XP_016883193.1:p.Gly1170Ala
XM_017027705.1:c.3509G>C XP_016883194.1:p.Gly1170Ala
XM_017027706.1:c.3440G>C XP_016883195.1:p.Gly1147Ala
NM_015338.6:c.3593G>C MANE Select NP_056153.2:p.Gly1198Ala