Canonical Allele Identifier: CA408563040
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436139A>G , CM000682.2:g.32436139A>G GRCh38
NC_000020.10:g.31023942A>G , CM000682.1:g.31023942A>G GRCh37
NC_000020.9:g.30487603A>G NCBI36
NG_027868.1:g.82796A>G , LRG_630:g.82796A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3427A>G MANE Select ENSP00000364839.4:p.Ser1143Gly
ENST00000646985.1:c.3244A>G ENSP00000495053.1:p.Ser1082Gly
ENST00000647223.1:n.5780A>G
ENST00000651418.1:c.1869+1558A>G ENSP00000499150.1:n.1869+1558A>G
ENST00000306058.9:c.3412A>G ENSP00000305119.5:p.Ser1138Gly
ENST00000375687.8:c.3427A>G ENSP00000364839.4:p.Ser1143Gly
ENST00000613218.4:c.3427A>G ENSP00000480487.1:p.Ser1143Gly
ENST00000620121.4:c.3427A>G ENSP00000481978.1:p.Ser1143Gly
NM_015338.5:c.3427A>G , LRG_630t1:c.3427A>G NP_056153.2:p.Ser1143Gly
XM_006723727.2:c.3424A>G XP_006723790.1:p.Ser1142Gly
XM_006723728.2:c.3397A>G XP_006723791.1:p.Ser1133Gly
XM_006723730.2:c.3343A>G XP_006723793.1:p.Ser1115Gly
XM_006723732.2:c.3244A>G XP_006723795.1:p.Ser1082Gly
XM_006723733.1:c.2743A>G XP_006723796.1:p.Ser915Gly
XM_011528647.1:c.3691A>G XP_011526949.1:p.Ser1231Gly
XM_011528648.1:c.3688A>G XP_011526950.1:p.Ser1230Gly
XM_011528649.1:c.3607A>G XP_011526951.1:p.Ser1203Gly
XM_011528650.1:c.3538A>G XP_011526952.1:p.Ser1180Gly
XM_011528651.1:c.3406A>G XP_011526953.1:p.Ser1136Gly
XM_011528652.1:c.3343A>G XP_011526954.1:p.Ser1115Gly
NM_001363734.1:c.3244A>G NP_001350663.1:p.Ser1082Gly
XM_006723727.3:c.3424A>G XP_006723790.1:p.Ser1142Gly
XM_006723728.3:c.3397A>G XP_006723791.1:p.Ser1133Gly
XM_006723730.4:c.3343A>G XP_006723793.1:p.Ser1115Gly
XM_011528648.3:c.3688A>G XP_011526950.1:p.Ser1230Gly
XM_011528652.2:c.3343A>G XP_011526954.1:p.Ser1115Gly
XM_017027704.1:c.3343A>G XP_016883193.1:p.Ser1115Gly
XM_017027705.1:c.3343A>G XP_016883194.1:p.Ser1115Gly
XM_017027706.1:c.3274A>G XP_016883195.1:p.Ser1092Gly
NM_015338.6:c.3427A>G MANE Select NP_056153.2:p.Ser1143Gly