Canonical Allele Identifier: CA408564181
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436688C>G , CM000682.2:g.32436688C>G GRCh38
NC_000020.10:g.31024491C>G , CM000682.1:g.31024491C>G GRCh37
NC_000020.9:g.30488152C>G NCBI36
NG_027868.1:g.83345C>G , LRG_630:g.83345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3976C>G MANE Select ENSP00000364839.4:p.Pro1326Ala
ENST00000646985.1:c.3793C>G ENSP00000495053.1:p.Pro1265Ala
ENST00000647223.1:n.6329C>G
ENST00000651418.1:c.1870-1742C>G ENSP00000499150.1:n.1870-1742C>G
ENST00000306058.9:c.3961C>G ENSP00000305119.5:p.Pro1321Ala
ENST00000375687.8:c.3976C>G ENSP00000364839.4:p.Pro1326Ala
ENST00000613218.4:c.3976C>G ENSP00000480487.1:p.Pro1326Ala
ENST00000620121.4:c.3976C>G ENSP00000481978.1:p.Pro1326Ala
NM_015338.5:c.3976C>G , LRG_630t1:c.3976C>G NP_056153.2:p.Pro1326Ala
XM_006723727.2:c.3973C>G XP_006723790.1:p.Pro1325Ala
XM_006723728.2:c.3946C>G XP_006723791.1:p.Pro1316Ala
XM_006723730.2:c.3892C>G XP_006723793.1:p.Pro1298Ala
XM_006723732.2:c.3793C>G XP_006723795.1:p.Pro1265Ala
XM_006723733.1:c.3292C>G XP_006723796.1:p.Pro1098Ala
XM_011528647.1:c.4240C>G XP_011526949.1:p.Pro1414Ala
XM_011528648.1:c.4237C>G XP_011526950.1:p.Pro1413Ala
XM_011528649.1:c.4156C>G XP_011526951.1:p.Pro1386Ala
XM_011528650.1:c.4087C>G XP_011526952.1:p.Pro1363Ala
XM_011528651.1:c.3955C>G XP_011526953.1:p.Pro1319Ala
XM_011528652.1:c.3892C>G XP_011526954.1:p.Pro1298Ala
NM_001363734.1:c.3793C>G NP_001350663.1:p.Pro1265Ala
XM_006723727.3:c.3973C>G XP_006723790.1:p.Pro1325Ala
XM_006723728.3:c.3946C>G XP_006723791.1:p.Pro1316Ala
XM_006723730.4:c.3892C>G XP_006723793.1:p.Pro1298Ala
XM_011528648.3:c.4237C>G XP_011526950.1:p.Pro1413Ala
XM_011528652.2:c.3892C>G XP_011526954.1:p.Pro1298Ala
XM_017027704.1:c.3892C>G XP_016883193.1:p.Pro1298Ala
XM_017027705.1:c.3892C>G XP_016883194.1:p.Pro1298Ala
XM_017027706.1:c.3823C>G XP_016883195.1:p.Pro1275Ala
NM_015338.6:c.3976C>G MANE Select NP_056153.2:p.Pro1326Ala