Canonical Allele Identifier: CA408562860
Gene: ASXL1 HGNC NCBI

Linked Data

COSMIC: COSM723121

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436055A>G , CM000682.2:g.32436055A>G GRCh38
NC_000020.10:g.31023858A>G , CM000682.1:g.31023858A>G GRCh37
NC_000020.9:g.30487519A>G NCBI36
NG_027868.1:g.82712A>G , LRG_630:g.82712A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3343A>G MANE Select ENSP00000364839.4:p.Ser1115Gly
ENST00000646985.1:c.3160A>G ENSP00000495053.1:p.Ser1054Gly
ENST00000647223.1:n.5696A>G
ENST00000651418.1:c.1869+1474A>G ENSP00000499150.1:n.1869+1474A>G
ENST00000306058.9:c.3328A>G ENSP00000305119.5:p.Ser1110Gly
ENST00000375687.8:c.3343A>G ENSP00000364839.4:p.Ser1115Gly
ENST00000613218.4:c.3343A>G ENSP00000480487.1:p.Ser1115Gly
ENST00000620121.4:c.3343A>G ENSP00000481978.1:p.Ser1115Gly
NM_015338.5:c.3343A>G , LRG_630t1:c.3343A>G NP_056153.2:p.Ser1115Gly
XM_006723727.2:c.3340A>G XP_006723790.1:p.Ser1114Gly
XM_006723728.2:c.3313A>G XP_006723791.1:p.Ser1105Gly
XM_006723730.2:c.3259A>G XP_006723793.1:p.Ser1087Gly
XM_006723732.2:c.3160A>G XP_006723795.1:p.Ser1054Gly
XM_006723733.1:c.2659A>G XP_006723796.1:p.Ser887Gly
XM_011528647.1:c.3607A>G XP_011526949.1:p.Ser1203Gly
XM_011528648.1:c.3604A>G XP_011526950.1:p.Ser1202Gly
XM_011528649.1:c.3523A>G XP_011526951.1:p.Ser1175Gly
XM_011528650.1:c.3454A>G XP_011526952.1:p.Ser1152Gly
XM_011528651.1:c.3322A>G XP_011526953.1:p.Ser1108Gly
XM_011528652.1:c.3259A>G XP_011526954.1:p.Ser1087Gly
NM_001363734.1:c.3160A>G NP_001350663.1:p.Ser1054Gly
XM_006723727.3:c.3340A>G XP_006723790.1:p.Ser1114Gly
XM_006723728.3:c.3313A>G XP_006723791.1:p.Ser1105Gly
XM_006723730.4:c.3259A>G XP_006723793.1:p.Ser1087Gly
XM_011528648.3:c.3604A>G XP_011526950.1:p.Ser1202Gly
XM_011528652.2:c.3259A>G XP_011526954.1:p.Ser1087Gly
XM_017027704.1:c.3259A>G XP_016883193.1:p.Ser1087Gly
XM_017027705.1:c.3259A>G XP_016883194.1:p.Ser1087Gly
XM_017027706.1:c.3190A>G XP_016883195.1:p.Ser1064Gly
NM_015338.6:c.3343A>G MANE Select NP_056153.2:p.Ser1115Gly