Canonical Allele Identifier: CA408564005
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436599A>G , CM000682.2:g.32436599A>G GRCh38
NC_000020.10:g.31024402A>G , CM000682.1:g.31024402A>G GRCh37
NC_000020.9:g.30488063A>G NCBI36
NG_027868.1:g.83256A>G , LRG_630:g.83256A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3887A>G MANE Select ENSP00000364839.4:p.Asn1296Ser
ENST00000646985.1:c.3704A>G ENSP00000495053.1:p.Asn1235Ser
ENST00000647223.1:n.6240A>G
ENST00000651418.1:c.1870-1831A>G ENSP00000499150.1:n.1870-1831A>G
ENST00000306058.9:c.3872A>G ENSP00000305119.5:p.Asn1291Ser
ENST00000375687.8:c.3887A>G ENSP00000364839.4:p.Asn1296Ser
ENST00000613218.4:c.3887A>G ENSP00000480487.1:p.Asn1296Ser
ENST00000620121.4:c.3887A>G ENSP00000481978.1:p.Asn1296Ser
NM_015338.5:c.3887A>G , LRG_630t1:c.3887A>G NP_056153.2:p.Asn1296Ser
XM_006723727.2:c.3884A>G XP_006723790.1:p.Asn1295Ser
XM_006723728.2:c.3857A>G XP_006723791.1:p.Asn1286Ser
XM_006723730.2:c.3803A>G XP_006723793.1:p.Asn1268Ser
XM_006723732.2:c.3704A>G XP_006723795.1:p.Asn1235Ser
XM_006723733.1:c.3203A>G XP_006723796.1:p.Asn1068Ser
XM_011528647.1:c.4151A>G XP_011526949.1:p.Asn1384Ser
XM_011528648.1:c.4148A>G XP_011526950.1:p.Asn1383Ser
XM_011528649.1:c.4067A>G XP_011526951.1:p.Asn1356Ser
XM_011528650.1:c.3998A>G XP_011526952.1:p.Asn1333Ser
XM_011528651.1:c.3866A>G XP_011526953.1:p.Asn1289Ser
XM_011528652.1:c.3803A>G XP_011526954.1:p.Asn1268Ser
NM_001363734.1:c.3704A>G NP_001350663.1:p.Asn1235Ser
XM_006723727.3:c.3884A>G XP_006723790.1:p.Asn1295Ser
XM_006723728.3:c.3857A>G XP_006723791.1:p.Asn1286Ser
XM_006723730.4:c.3803A>G XP_006723793.1:p.Asn1268Ser
XM_011528648.3:c.4148A>G XP_011526950.1:p.Asn1383Ser
XM_011528652.2:c.3803A>G XP_011526954.1:p.Asn1268Ser
XM_017027704.1:c.3803A>G XP_016883193.1:p.Asn1268Ser
XM_017027705.1:c.3803A>G XP_016883194.1:p.Asn1268Ser
XM_017027706.1:c.3734A>G XP_016883195.1:p.Asn1245Ser
NM_015338.6:c.3887A>G MANE Select NP_056153.2:p.Asn1296Ser