Canonical Allele Identifier: CA408564130
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2145390020

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436662C>G , CM000682.2:g.32436662C>G GRCh38
NC_000020.10:g.31024465C>G , CM000682.1:g.31024465C>G GRCh37
NC_000020.9:g.30488126C>G NCBI36
NG_027868.1:g.83319C>G , LRG_630:g.83319C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3950C>G MANE Select ENSP00000364839.4:p.Pro1317Arg
ENST00000646985.1:c.3767C>G ENSP00000495053.1:p.Pro1256Arg
ENST00000647223.1:n.6303C>G
ENST00000651418.1:c.1870-1768C>G ENSP00000499150.1:n.1870-1768C>G
ENST00000306058.9:c.3935C>G ENSP00000305119.5:p.Pro1312Arg
ENST00000375687.8:c.3950C>G ENSP00000364839.4:p.Pro1317Arg
ENST00000613218.4:c.3950C>G ENSP00000480487.1:p.Pro1317Arg
ENST00000620121.4:c.3950C>G ENSP00000481978.1:p.Pro1317Arg
NM_015338.5:c.3950C>G , LRG_630t1:c.3950C>G NP_056153.2:p.Pro1317Arg
XM_006723727.2:c.3947C>G XP_006723790.1:p.Pro1316Arg
XM_006723728.2:c.3920C>G XP_006723791.1:p.Pro1307Arg
XM_006723730.2:c.3866C>G XP_006723793.1:p.Pro1289Arg
XM_006723732.2:c.3767C>G XP_006723795.1:p.Pro1256Arg
XM_006723733.1:c.3266C>G XP_006723796.1:p.Pro1089Arg
XM_011528647.1:c.4214C>G XP_011526949.1:p.Pro1405Arg
XM_011528648.1:c.4211C>G XP_011526950.1:p.Pro1404Arg
XM_011528649.1:c.4130C>G XP_011526951.1:p.Pro1377Arg
XM_011528650.1:c.4061C>G XP_011526952.1:p.Pro1354Arg
XM_011528651.1:c.3929C>G XP_011526953.1:p.Pro1310Arg
XM_011528652.1:c.3866C>G XP_011526954.1:p.Pro1289Arg
NM_001363734.1:c.3767C>G NP_001350663.1:p.Pro1256Arg
XM_006723727.3:c.3947C>G XP_006723790.1:p.Pro1316Arg
XM_006723728.3:c.3920C>G XP_006723791.1:p.Pro1307Arg
XM_006723730.4:c.3866C>G XP_006723793.1:p.Pro1289Arg
XM_011528648.3:c.4211C>G XP_011526950.1:p.Pro1404Arg
XM_011528652.2:c.3866C>G XP_011526954.1:p.Pro1289Arg
XM_017027704.1:c.3866C>G XP_016883193.1:p.Pro1289Arg
XM_017027705.1:c.3866C>G XP_016883194.1:p.Pro1289Arg
XM_017027706.1:c.3797C>G XP_016883195.1:p.Pro1266Arg
NM_015338.6:c.3950C>G MANE Select NP_056153.2:p.Pro1317Arg