Canonical Allele Identifier: CA408563346
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436287A>C , CM000682.2:g.32436287A>C GRCh38
NC_000020.10:g.31024090A>C , CM000682.1:g.31024090A>C GRCh37
NC_000020.9:g.30487751A>C NCBI36
NG_027868.1:g.82944A>C , LRG_630:g.82944A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3575A>C MANE Select ENSP00000364839.4:p.Glu1192Ala
ENST00000646985.1:c.3392A>C ENSP00000495053.1:p.Glu1131Ala
ENST00000647223.1:n.5928A>C
ENST00000651418.1:c.1869+1706A>C ENSP00000499150.1:n.1869+1706A>C
ENST00000306058.9:c.3560A>C ENSP00000305119.5:p.Glu1187Ala
ENST00000375687.8:c.3575A>C ENSP00000364839.4:p.Glu1192Ala
ENST00000613218.4:c.3575A>C ENSP00000480487.1:p.Glu1192Ala
ENST00000620121.4:c.3575A>C ENSP00000481978.1:p.Glu1192Ala
NM_015338.5:c.3575A>C , LRG_630t1:c.3575A>C NP_056153.2:p.Glu1192Ala
XM_006723727.2:c.3572A>C XP_006723790.1:p.Glu1191Ala
XM_006723728.2:c.3545A>C XP_006723791.1:p.Glu1182Ala
XM_006723730.2:c.3491A>C XP_006723793.1:p.Glu1164Ala
XM_006723732.2:c.3392A>C XP_006723795.1:p.Glu1131Ala
XM_006723733.1:c.2891A>C XP_006723796.1:p.Glu964Ala
XM_011528647.1:c.3839A>C XP_011526949.1:p.Glu1280Ala
XM_011528648.1:c.3836A>C XP_011526950.1:p.Glu1279Ala
XM_011528649.1:c.3755A>C XP_011526951.1:p.Glu1252Ala
XM_011528650.1:c.3686A>C XP_011526952.1:p.Glu1229Ala
XM_011528651.1:c.3554A>C XP_011526953.1:p.Glu1185Ala
XM_011528652.1:c.3491A>C XP_011526954.1:p.Glu1164Ala
NM_001363734.1:c.3392A>C NP_001350663.1:p.Glu1131Ala
XM_006723727.3:c.3572A>C XP_006723790.1:p.Glu1191Ala
XM_006723728.3:c.3545A>C XP_006723791.1:p.Glu1182Ala
XM_006723730.4:c.3491A>C XP_006723793.1:p.Glu1164Ala
XM_011528648.3:c.3836A>C XP_011526950.1:p.Glu1279Ala
XM_011528652.2:c.3491A>C XP_011526954.1:p.Glu1164Ala
XM_017027704.1:c.3491A>C XP_016883193.1:p.Glu1164Ala
XM_017027705.1:c.3491A>C XP_016883194.1:p.Glu1164Ala
XM_017027706.1:c.3422A>C XP_016883195.1:p.Glu1141Ala
NM_015338.6:c.3575A>C MANE Select NP_056153.2:p.Glu1192Ala