Canonical Allele Identifier: CA408563542
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs1256319244

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3668C>T MANE Select ENSP00000364839.4:p.Ser1223Phe
ENST00000646985.1:c.3485C>T ENSP00000495053.1:p.Ser1162Phe
ENST00000647223.1:n.6021C>T
ENST00000651418.1:c.1869+1799C>T ENSP00000499150.1:n.1869+1799C>T
ENST00000306058.9:c.3653C>T ENSP00000305119.5:p.Ser1218Phe
ENST00000375687.8:c.3668C>T ENSP00000364839.4:p.Ser1223Phe
ENST00000613218.4:c.3668C>T ENSP00000480487.1:p.Ser1223Phe
ENST00000620121.4:c.3668C>T ENSP00000481978.1:p.Ser1223Phe
NM_015338.5:c.3668C>T , LRG_630t1:c.3668C>T NP_056153.2:p.Ser1223Phe
XM_006723727.2:c.3665C>T XP_006723790.1:p.Ser1222Phe
XM_006723728.2:c.3638C>T XP_006723791.1:p.Ser1213Phe
XM_006723730.2:c.3584C>T XP_006723793.1:p.Ser1195Phe
XM_006723732.2:c.3485C>T XP_006723795.1:p.Ser1162Phe
XM_006723733.1:c.2984C>T XP_006723796.1:p.Ser995Phe
XM_011528647.1:c.3932C>T XP_011526949.1:p.Ser1311Phe
XM_011528648.1:c.3929C>T XP_011526950.1:p.Ser1310Phe
XM_011528649.1:c.3848C>T XP_011526951.1:p.Ser1283Phe
XM_011528650.1:c.3779C>T XP_011526952.1:p.Ser1260Phe
XM_011528651.1:c.3647C>T XP_011526953.1:p.Ser1216Phe
XM_011528652.1:c.3584C>T XP_011526954.1:p.Ser1195Phe
NM_001363734.1:c.3485C>T NP_001350663.1:p.Ser1162Phe
XM_006723727.3:c.3665C>T XP_006723790.1:p.Ser1222Phe
XM_006723728.3:c.3638C>T XP_006723791.1:p.Ser1213Phe
XM_006723730.4:c.3584C>T XP_006723793.1:p.Ser1195Phe
XM_011528648.3:c.3929C>T XP_011526950.1:p.Ser1310Phe
XM_011528652.2:c.3584C>T XP_011526954.1:p.Ser1195Phe
XM_017027704.1:c.3584C>T XP_016883193.1:p.Ser1195Phe
XM_017027705.1:c.3584C>T XP_016883194.1:p.Ser1195Phe
XM_017027706.1:c.3515C>T XP_016883195.1:p.Ser1172Phe
NM_015338.6:c.3668C>T MANE Select NP_056153.2:p.Ser1223Phe