Canonical Allele Identifier: CA408551752
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428327T>G , CM000682.2:g.32428327T>G GRCh38
NC_000020.10:g.31016130T>G , CM000682.1:g.31016130T>G GRCh37
NC_000020.9:g.30479791T>G NCBI36
NG_027868.1:g.74984T>G , LRG_630:g.74984T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.376T>G MANE Select ENSP00000364839.4:p.Ser126Ala
ENST00000470145.3:n.395T>G
ENST00000643168.1:c.292T>G ENSP00000495003.1:p.Ser98Ala
ENST00000644060.1:n.1180T>G
ENST00000644587.1:c.*215T>G ENSP00000494813.1:n.*215T>G
ENST00000644615.1:n.80T>G
ENST00000645514.1:n.200T>G
ENST00000646985.1:c.346T>G ENSP00000495053.1:p.Ser116Ala
ENST00000651418.1:c.376T>G ENSP00000499150.1:p.Ser126Ala
ENST00000306058.9:c.361T>G ENSP00000305119.5:p.Ser121Ala
ENST00000375687.8:c.376T>G ENSP00000364839.4:p.Ser126Ala
ENST00000470145.2:n.395T>G
ENST00000613218.4:c.376T>G ENSP00000480487.1:p.Ser126Ala
ENST00000620121.4:c.376T>G ENSP00000481978.1:p.Ser126Ala
NM_015338.5:c.376T>G , LRG_630t1:c.376T>G NP_056153.2:p.Ser126Ala
XM_006723727.2:c.373T>G XP_006723790.1:p.Ser125Ala
XM_006723728.2:c.346T>G XP_006723791.1:p.Ser116Ala
XM_006723730.2:c.292T>G XP_006723793.1:p.Ser98Ala
XM_006723732.2:c.346T>G XP_006723795.1:p.Ser116Ala
XM_011528647.1:c.640T>G XP_011526949.1:p.Ser214Ala
XM_011528648.1:c.637T>G XP_011526950.1:p.Ser213Ala
XM_011528649.1:c.556T>G XP_011526951.1:p.Ser186Ala
XM_011528650.1:c.640T>G XP_011526952.1:p.Ser214Ala
XM_011528651.1:c.355T>G XP_011526953.1:p.Ser119Ala
XM_011528652.1:c.292T>G XP_011526954.1:p.Ser98Ala
NM_001363734.1:c.346T>G NP_001350663.1:p.Ser116Ala
XM_006723727.3:c.373T>G XP_006723790.1:p.Ser125Ala
XM_006723728.3:c.346T>G XP_006723791.1:p.Ser116Ala
XM_006723730.4:c.292T>G XP_006723793.1:p.Ser98Ala
XM_011528648.3:c.637T>G XP_011526950.1:p.Ser213Ala
XM_011528652.2:c.292T>G XP_011526954.1:p.Ser98Ala
XM_017027704.1:c.292T>G XP_016883193.1:p.Ser98Ala
XM_017027705.1:c.292T>G XP_016883194.1:p.Ser98Ala
XM_017027706.1:c.376T>G XP_016883195.1:p.Ser126Ala
NM_015338.6:c.376T>G MANE Select NP_056153.2:p.Ser126Ala