Canonical Allele Identifier: CA408564146
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436671C>G , CM000682.2:g.32436671C>G GRCh38
NC_000020.10:g.31024474C>G , CM000682.1:g.31024474C>G GRCh37
NC_000020.9:g.30488135C>G NCBI36
NG_027868.1:g.83328C>G , LRG_630:g.83328C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3959C>G MANE Select ENSP00000364839.4:p.Ala1320Gly
ENST00000646985.1:c.3776C>G ENSP00000495053.1:p.Ala1259Gly
ENST00000647223.1:n.6312C>G
ENST00000651418.1:c.1870-1759C>G ENSP00000499150.1:n.1870-1759C>G
ENST00000306058.9:c.3944C>G ENSP00000305119.5:p.Ala1315Gly
ENST00000375687.8:c.3959C>G ENSP00000364839.4:p.Ala1320Gly
ENST00000613218.4:c.3959C>G ENSP00000480487.1:p.Ala1320Gly
ENST00000620121.4:c.3959C>G ENSP00000481978.1:p.Ala1320Gly
NM_015338.5:c.3959C>G , LRG_630t1:c.3959C>G NP_056153.2:p.Ala1320Gly
XM_006723727.2:c.3956C>G XP_006723790.1:p.Ala1319Gly
XM_006723728.2:c.3929C>G XP_006723791.1:p.Ala1310Gly
XM_006723730.2:c.3875C>G XP_006723793.1:p.Ala1292Gly
XM_006723732.2:c.3776C>G XP_006723795.1:p.Ala1259Gly
XM_006723733.1:c.3275C>G XP_006723796.1:p.Ala1092Gly
XM_011528647.1:c.4223C>G XP_011526949.1:p.Ala1408Gly
XM_011528648.1:c.4220C>G XP_011526950.1:p.Ala1407Gly
XM_011528649.1:c.4139C>G XP_011526951.1:p.Ala1380Gly
XM_011528650.1:c.4070C>G XP_011526952.1:p.Ala1357Gly
XM_011528651.1:c.3938C>G XP_011526953.1:p.Ala1313Gly
XM_011528652.1:c.3875C>G XP_011526954.1:p.Ala1292Gly
NM_001363734.1:c.3776C>G NP_001350663.1:p.Ala1259Gly
XM_006723727.3:c.3956C>G XP_006723790.1:p.Ala1319Gly
XM_006723728.3:c.3929C>G XP_006723791.1:p.Ala1310Gly
XM_006723730.4:c.3875C>G XP_006723793.1:p.Ala1292Gly
XM_011528648.3:c.4220C>G XP_011526950.1:p.Ala1407Gly
XM_011528652.2:c.3875C>G XP_011526954.1:p.Ala1292Gly
XM_017027704.1:c.3875C>G XP_016883193.1:p.Ala1292Gly
XM_017027705.1:c.3875C>G XP_016883194.1:p.Ala1292Gly
XM_017027706.1:c.3806C>G XP_016883195.1:p.Ala1269Gly
NM_015338.6:c.3959C>G MANE Select NP_056153.2:p.Ala1320Gly