Canonical Allele Identifier: CA408563351
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436289G>C , CM000682.2:g.32436289G>C GRCh38
NC_000020.10:g.31024092G>C , CM000682.1:g.31024092G>C GRCh37
NC_000020.9:g.30487753G>C NCBI36
NG_027868.1:g.82946G>C , LRG_630:g.82946G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3577G>C MANE Select ENSP00000364839.4:p.Ala1193Pro
ENST00000646985.1:c.3394G>C ENSP00000495053.1:p.Ala1132Pro
ENST00000647223.1:n.5930G>C
ENST00000651418.1:c.1869+1708G>C ENSP00000499150.1:n.1869+1708G>C
ENST00000306058.9:c.3562G>C ENSP00000305119.5:p.Ala1188Pro
ENST00000375687.8:c.3577G>C ENSP00000364839.4:p.Ala1193Pro
ENST00000613218.4:c.3577G>C ENSP00000480487.1:p.Ala1193Pro
ENST00000620121.4:c.3577G>C ENSP00000481978.1:p.Ala1193Pro
NM_015338.5:c.3577G>C , LRG_630t1:c.3577G>C NP_056153.2:p.Ala1193Pro
XM_006723727.2:c.3574G>C XP_006723790.1:p.Ala1192Pro
XM_006723728.2:c.3547G>C XP_006723791.1:p.Ala1183Pro
XM_006723730.2:c.3493G>C XP_006723793.1:p.Ala1165Pro
XM_006723732.2:c.3394G>C XP_006723795.1:p.Ala1132Pro
XM_006723733.1:c.2893G>C XP_006723796.1:p.Ala965Pro
XM_011528647.1:c.3841G>C XP_011526949.1:p.Ala1281Pro
XM_011528648.1:c.3838G>C XP_011526950.1:p.Ala1280Pro
XM_011528649.1:c.3757G>C XP_011526951.1:p.Ala1253Pro
XM_011528650.1:c.3688G>C XP_011526952.1:p.Ala1230Pro
XM_011528651.1:c.3556G>C XP_011526953.1:p.Ala1186Pro
XM_011528652.1:c.3493G>C XP_011526954.1:p.Ala1165Pro
NM_001363734.1:c.3394G>C NP_001350663.1:p.Ala1132Pro
XM_006723727.3:c.3574G>C XP_006723790.1:p.Ala1192Pro
XM_006723728.3:c.3547G>C XP_006723791.1:p.Ala1183Pro
XM_006723730.4:c.3493G>C XP_006723793.1:p.Ala1165Pro
XM_011528648.3:c.3838G>C XP_011526950.1:p.Ala1280Pro
XM_011528652.2:c.3493G>C XP_011526954.1:p.Ala1165Pro
XM_017027704.1:c.3493G>C XP_016883193.1:p.Ala1165Pro
XM_017027705.1:c.3493G>C XP_016883194.1:p.Ala1165Pro
XM_017027706.1:c.3424G>C XP_016883195.1:p.Ala1142Pro
NM_015338.6:c.3577G>C MANE Select NP_056153.2:p.Ala1193Pro