Canonical Allele Identifier: CA408562790
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436020C>A , CM000682.2:g.32436020C>A GRCh38
NC_000020.10:g.31023823C>A , CM000682.1:g.31023823C>A GRCh37
NC_000020.9:g.30487484C>A NCBI36
NG_027868.1:g.82677C>A , LRG_630:g.82677C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3308C>A MANE Select ENSP00000364839.4:p.Ala1103Asp
ENST00000646985.1:c.3125C>A ENSP00000495053.1:p.Ala1042Asp
ENST00000647223.1:n.5661C>A
ENST00000651418.1:c.1869+1439C>A ENSP00000499150.1:n.1869+1439C>A
ENST00000306058.9:c.3293C>A ENSP00000305119.5:p.Ala1098Asp
ENST00000375687.8:c.3308C>A ENSP00000364839.4:p.Ala1103Asp
ENST00000613218.4:c.3308C>A ENSP00000480487.1:p.Ala1103Asp
ENST00000620121.4:c.3308C>A ENSP00000481978.1:p.Ala1103Asp
NM_015338.5:c.3308C>A , LRG_630t1:c.3308C>A NP_056153.2:p.Ala1103Asp
XM_006723727.2:c.3305C>A XP_006723790.1:p.Ala1102Asp
XM_006723728.2:c.3278C>A XP_006723791.1:p.Ala1093Asp
XM_006723730.2:c.3224C>A XP_006723793.1:p.Ala1075Asp
XM_006723732.2:c.3125C>A XP_006723795.1:p.Ala1042Asp
XM_006723733.1:c.2624C>A XP_006723796.1:p.Ala875Asp
XM_011528647.1:c.3572C>A XP_011526949.1:p.Ala1191Asp
XM_011528648.1:c.3569C>A XP_011526950.1:p.Ala1190Asp
XM_011528649.1:c.3488C>A XP_011526951.1:p.Ala1163Asp
XM_011528650.1:c.3419C>A XP_011526952.1:p.Ala1140Asp
XM_011528651.1:c.3287C>A XP_011526953.1:p.Ala1096Asp
XM_011528652.1:c.3224C>A XP_011526954.1:p.Ala1075Asp
NM_001363734.1:c.3125C>A NP_001350663.1:p.Ala1042Asp
XM_006723727.3:c.3305C>A XP_006723790.1:p.Ala1102Asp
XM_006723728.3:c.3278C>A XP_006723791.1:p.Ala1093Asp
XM_006723730.4:c.3224C>A XP_006723793.1:p.Ala1075Asp
XM_011528648.3:c.3569C>A XP_011526950.1:p.Ala1190Asp
XM_011528652.2:c.3224C>A XP_011526954.1:p.Ala1075Asp
XM_017027704.1:c.3224C>A XP_016883193.1:p.Ala1075Asp
XM_017027705.1:c.3224C>A XP_016883194.1:p.Ala1075Asp
XM_017027706.1:c.3155C>A XP_016883195.1:p.Ala1052Asp
NM_015338.6:c.3308C>A MANE Select NP_056153.2:p.Ala1103Asp