Canonical Allele Identifier: CA408563497
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436356C>G , CM000682.2:g.32436356C>G GRCh38
NC_000020.10:g.31024159C>G , CM000682.1:g.31024159C>G GRCh37
NC_000020.9:g.30487820C>G NCBI36
NG_027868.1:g.83013C>G , LRG_630:g.83013C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3644C>G MANE Select ENSP00000364839.4:p.Pro1215Arg
ENST00000646985.1:c.3461C>G ENSP00000495053.1:p.Pro1154Arg
ENST00000647223.1:n.5997C>G
ENST00000651418.1:c.1869+1775C>G ENSP00000499150.1:n.1869+1775C>G
ENST00000306058.9:c.3629C>G ENSP00000305119.5:p.Pro1210Arg
ENST00000375687.8:c.3644C>G ENSP00000364839.4:p.Pro1215Arg
ENST00000613218.4:c.3644C>G ENSP00000480487.1:p.Pro1215Arg
ENST00000620121.4:c.3644C>G ENSP00000481978.1:p.Pro1215Arg
NM_015338.5:c.3644C>G , LRG_630t1:c.3644C>G NP_056153.2:p.Pro1215Arg
XM_006723727.2:c.3641C>G XP_006723790.1:p.Pro1214Arg
XM_006723728.2:c.3614C>G XP_006723791.1:p.Pro1205Arg
XM_006723730.2:c.3560C>G XP_006723793.1:p.Pro1187Arg
XM_006723732.2:c.3461C>G XP_006723795.1:p.Pro1154Arg
XM_006723733.1:c.2960C>G XP_006723796.1:p.Pro987Arg
XM_011528647.1:c.3908C>G XP_011526949.1:p.Pro1303Arg
XM_011528648.1:c.3905C>G XP_011526950.1:p.Pro1302Arg
XM_011528649.1:c.3824C>G XP_011526951.1:p.Pro1275Arg
XM_011528650.1:c.3755C>G XP_011526952.1:p.Pro1252Arg
XM_011528651.1:c.3623C>G XP_011526953.1:p.Pro1208Arg
XM_011528652.1:c.3560C>G XP_011526954.1:p.Pro1187Arg
NM_001363734.1:c.3461C>G NP_001350663.1:p.Pro1154Arg
XM_006723727.3:c.3641C>G XP_006723790.1:p.Pro1214Arg
XM_006723728.3:c.3614C>G XP_006723791.1:p.Pro1205Arg
XM_006723730.4:c.3560C>G XP_006723793.1:p.Pro1187Arg
XM_011528648.3:c.3905C>G XP_011526950.1:p.Pro1302Arg
XM_011528652.2:c.3560C>G XP_011526954.1:p.Pro1187Arg
XM_017027704.1:c.3560C>G XP_016883193.1:p.Pro1187Arg
XM_017027705.1:c.3560C>G XP_016883194.1:p.Pro1187Arg
XM_017027706.1:c.3491C>G XP_016883195.1:p.Pro1164Arg
NM_015338.6:c.3644C>G MANE Select NP_056153.2:p.Pro1215Arg