Canonical Allele Identifier: CA408563543
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436380C>A , CM000682.2:g.32436380C>A GRCh38
NC_000020.10:g.31024183C>A , CM000682.1:g.31024183C>A GRCh37
NC_000020.9:g.30487844C>A NCBI36
NG_027868.1:g.83037C>A , LRG_630:g.83037C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3668C>A MANE Select ENSP00000364839.4:p.Ser1223Tyr
ENST00000646985.1:c.3485C>A ENSP00000495053.1:p.Ser1162Tyr
ENST00000647223.1:n.6021C>A
ENST00000651418.1:c.1869+1799C>A ENSP00000499150.1:n.1869+1799C>A
ENST00000306058.9:c.3653C>A ENSP00000305119.5:p.Ser1218Tyr
ENST00000375687.8:c.3668C>A ENSP00000364839.4:p.Ser1223Tyr
ENST00000613218.4:c.3668C>A ENSP00000480487.1:p.Ser1223Tyr
ENST00000620121.4:c.3668C>A ENSP00000481978.1:p.Ser1223Tyr
NM_015338.5:c.3668C>A , LRG_630t1:c.3668C>A NP_056153.2:p.Ser1223Tyr
XM_006723727.2:c.3665C>A XP_006723790.1:p.Ser1222Tyr
XM_006723728.2:c.3638C>A XP_006723791.1:p.Ser1213Tyr
XM_006723730.2:c.3584C>A XP_006723793.1:p.Ser1195Tyr
XM_006723732.2:c.3485C>A XP_006723795.1:p.Ser1162Tyr
XM_006723733.1:c.2984C>A XP_006723796.1:p.Ser995Tyr
XM_011528647.1:c.3932C>A XP_011526949.1:p.Ser1311Tyr
XM_011528648.1:c.3929C>A XP_011526950.1:p.Ser1310Tyr
XM_011528649.1:c.3848C>A XP_011526951.1:p.Ser1283Tyr
XM_011528650.1:c.3779C>A XP_011526952.1:p.Ser1260Tyr
XM_011528651.1:c.3647C>A XP_011526953.1:p.Ser1216Tyr
XM_011528652.1:c.3584C>A XP_011526954.1:p.Ser1195Tyr
NM_001363734.1:c.3485C>A NP_001350663.1:p.Ser1162Tyr
XM_006723727.3:c.3665C>A XP_006723790.1:p.Ser1222Tyr
XM_006723728.3:c.3638C>A XP_006723791.1:p.Ser1213Tyr
XM_006723730.4:c.3584C>A XP_006723793.1:p.Ser1195Tyr
XM_011528648.3:c.3929C>A XP_011526950.1:p.Ser1310Tyr
XM_011528652.2:c.3584C>A XP_011526954.1:p.Ser1195Tyr
XM_017027704.1:c.3584C>A XP_016883193.1:p.Ser1195Tyr
XM_017027705.1:c.3584C>A XP_016883194.1:p.Ser1195Tyr
XM_017027706.1:c.3515C>A XP_016883195.1:p.Ser1172Tyr
NM_015338.6:c.3668C>A MANE Select NP_056153.2:p.Ser1223Tyr