Canonical Allele Identifier: CA408563039
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436138G>T , CM000682.2:g.32436138G>T GRCh38
NC_000020.10:g.31023941G>T , CM000682.1:g.31023941G>T GRCh37
NC_000020.9:g.30487602G>T NCBI36
NG_027868.1:g.82795G>T , LRG_630:g.82795G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3426G>T MANE Select ENSP00000364839.4:p.Gln1142His
ENST00000646985.1:c.3243G>T ENSP00000495053.1:p.Gln1081His
ENST00000647223.1:n.5779G>T
ENST00000651418.1:c.1869+1557G>T ENSP00000499150.1:n.1869+1557G>T
ENST00000306058.9:c.3411G>T ENSP00000305119.5:p.Gln1137His
ENST00000375687.8:c.3426G>T ENSP00000364839.4:p.Gln1142His
ENST00000613218.4:c.3426G>T ENSP00000480487.1:p.Gln1142His
ENST00000620121.4:c.3426G>T ENSP00000481978.1:p.Gln1142His
NM_015338.5:c.3426G>T , LRG_630t1:c.3426G>T NP_056153.2:p.Gln1142His
XM_006723727.2:c.3423G>T XP_006723790.1:p.Gln1141His
XM_006723728.2:c.3396G>T XP_006723791.1:p.Gln1132His
XM_006723730.2:c.3342G>T XP_006723793.1:p.Gln1114His
XM_006723732.2:c.3243G>T XP_006723795.1:p.Gln1081His
XM_006723733.1:c.2742G>T XP_006723796.1:p.Gln914His
XM_011528647.1:c.3690G>T XP_011526949.1:p.Gln1230His
XM_011528648.1:c.3687G>T XP_011526950.1:p.Gln1229His
XM_011528649.1:c.3606G>T XP_011526951.1:p.Gln1202His
XM_011528650.1:c.3537G>T XP_011526952.1:p.Gln1179His
XM_011528651.1:c.3405G>T XP_011526953.1:p.Gln1135His
XM_011528652.1:c.3342G>T XP_011526954.1:p.Gln1114His
NM_001363734.1:c.3243G>T NP_001350663.1:p.Gln1081His
XM_006723727.3:c.3423G>T XP_006723790.1:p.Gln1141His
XM_006723728.3:c.3396G>T XP_006723791.1:p.Gln1132His
XM_006723730.4:c.3342G>T XP_006723793.1:p.Gln1114His
XM_011528648.3:c.3687G>T XP_011526950.1:p.Gln1229His
XM_011528652.2:c.3342G>T XP_011526954.1:p.Gln1114His
XM_017027704.1:c.3342G>T XP_016883193.1:p.Gln1114His
XM_017027705.1:c.3342G>T XP_016883194.1:p.Gln1114His
XM_017027706.1:c.3273G>T XP_016883195.1:p.Gln1091His
NM_015338.6:c.3426G>T MANE Select NP_056153.2:p.Gln1142His