Canonical Allele Identifier: CA408562998
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436119T>C , CM000682.2:g.32436119T>C GRCh38
NC_000020.10:g.31023922T>C , CM000682.1:g.31023922T>C GRCh37
NC_000020.9:g.30487583T>C NCBI36
NG_027868.1:g.82776T>C , LRG_630:g.82776T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3407T>C MANE Select ENSP00000364839.4:p.Val1136Ala
ENST00000646985.1:c.3224T>C ENSP00000495053.1:p.Val1075Ala
ENST00000647223.1:n.5760T>C
ENST00000651418.1:c.1869+1538T>C ENSP00000499150.1:n.1869+1538T>C
ENST00000306058.9:c.3392T>C ENSP00000305119.5:p.Val1131Ala
ENST00000375687.8:c.3407T>C ENSP00000364839.4:p.Val1136Ala
ENST00000613218.4:c.3407T>C ENSP00000480487.1:p.Val1136Ala
ENST00000620121.4:c.3407T>C ENSP00000481978.1:p.Val1136Ala
NM_015338.5:c.3407T>C , LRG_630t1:c.3407T>C NP_056153.2:p.Val1136Ala
XM_006723727.2:c.3404T>C XP_006723790.1:p.Val1135Ala
XM_006723728.2:c.3377T>C XP_006723791.1:p.Val1126Ala
XM_006723730.2:c.3323T>C XP_006723793.1:p.Val1108Ala
XM_006723732.2:c.3224T>C XP_006723795.1:p.Val1075Ala
XM_006723733.1:c.2723T>C XP_006723796.1:p.Val908Ala
XM_011528647.1:c.3671T>C XP_011526949.1:p.Val1224Ala
XM_011528648.1:c.3668T>C XP_011526950.1:p.Val1223Ala
XM_011528649.1:c.3587T>C XP_011526951.1:p.Val1196Ala
XM_011528650.1:c.3518T>C XP_011526952.1:p.Val1173Ala
XM_011528651.1:c.3386T>C XP_011526953.1:p.Val1129Ala
XM_011528652.1:c.3323T>C XP_011526954.1:p.Val1108Ala
NM_001363734.1:c.3224T>C NP_001350663.1:p.Val1075Ala
XM_006723727.3:c.3404T>C XP_006723790.1:p.Val1135Ala
XM_006723728.3:c.3377T>C XP_006723791.1:p.Val1126Ala
XM_006723730.4:c.3323T>C XP_006723793.1:p.Val1108Ala
XM_011528648.3:c.3668T>C XP_011526950.1:p.Val1223Ala
XM_011528652.2:c.3323T>C XP_011526954.1:p.Val1108Ala
XM_017027704.1:c.3323T>C XP_016883193.1:p.Val1108Ala
XM_017027705.1:c.3323T>C XP_016883194.1:p.Val1108Ala
XM_017027706.1:c.3254T>C XP_016883195.1:p.Val1085Ala
NM_015338.6:c.3407T>C MANE Select NP_056153.2:p.Val1136Ala