Canonical Allele Identifier: CA9808848
Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378558
ClinVar RCV Id: RCV001881203
dbSNP Id: rs746200411

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436251A>G , CM000682.2:g.32436251A>G GRCh38
NC_000020.10:g.31024054A>G , CM000682.1:g.31024054A>G GRCh37
NC_000020.9:g.30487715A>G NCBI36
NG_027868.1:g.82908A>G , LRG_630:g.82908A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3539A>G MANE Select ENSP00000364839.4:p.Asp1180Gly
ENST00000646985.1:c.3356A>G ENSP00000495053.1:p.Asp1119Gly
ENST00000647223.1:n.5892A>G
ENST00000651418.1:c.1869+1670A>G ENSP00000499150.1:n.1869+1670A>G
ENST00000306058.9:c.3524A>G ENSP00000305119.5:p.Asp1175Gly
ENST00000375687.8:c.3539A>G ENSP00000364839.4:p.Asp1180Gly
ENST00000613218.4:c.3539A>G ENSP00000480487.1:p.Asp1180Gly
ENST00000620121.4:c.3539A>G ENSP00000481978.1:p.Asp1180Gly
NM_015338.5:c.3539A>G , LRG_630t1:c.3539A>G NP_056153.2:p.Asp1180Gly
XM_006723727.2:c.3536A>G XP_006723790.1:p.Asp1179Gly
XM_006723728.2:c.3509A>G XP_006723791.1:p.Asp1170Gly
XM_006723730.2:c.3455A>G XP_006723793.1:p.Asp1152Gly
XM_006723732.2:c.3356A>G XP_006723795.1:p.Asp1119Gly
XM_006723733.1:c.2855A>G XP_006723796.1:p.Asp952Gly
XM_011528647.1:c.3803A>G XP_011526949.1:p.Asp1268Gly
XM_011528648.1:c.3800A>G XP_011526950.1:p.Asp1267Gly
XM_011528649.1:c.3719A>G XP_011526951.1:p.Asp1240Gly
XM_011528650.1:c.3650A>G XP_011526952.1:p.Asp1217Gly
XM_011528651.1:c.3518A>G XP_011526953.1:p.Asp1173Gly
XM_011528652.1:c.3455A>G XP_011526954.1:p.Asp1152Gly
NM_001363734.1:c.3356A>G NP_001350663.1:p.Asp1119Gly
XM_006723727.3:c.3536A>G XP_006723790.1:p.Asp1179Gly
XM_006723728.3:c.3509A>G XP_006723791.1:p.Asp1170Gly
XM_006723730.4:c.3455A>G XP_006723793.1:p.Asp1152Gly
XM_011528648.3:c.3800A>G XP_011526950.1:p.Asp1267Gly
XM_011528652.2:c.3455A>G XP_011526954.1:p.Asp1152Gly
XM_017027704.1:c.3455A>G XP_016883193.1:p.Asp1152Gly
XM_017027705.1:c.3455A>G XP_016883194.1:p.Asp1152Gly
XM_017027706.1:c.3386A>G XP_016883195.1:p.Asp1129Gly
NM_015338.6:c.3539A>G MANE Select NP_056153.2:p.Asp1180Gly