Canonical Allele Identifier: CA408564028
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436611A>G , CM000682.2:g.32436611A>G GRCh38
NC_000020.10:g.31024414A>G , CM000682.1:g.31024414A>G GRCh37
NC_000020.9:g.30488075A>G NCBI36
NG_027868.1:g.83268A>G , LRG_630:g.83268A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3899A>G MANE Select ENSP00000364839.4:p.Gln1300Arg
ENST00000646985.1:c.3716A>G ENSP00000495053.1:p.Gln1239Arg
ENST00000647223.1:n.6252A>G
ENST00000651418.1:c.1870-1819A>G ENSP00000499150.1:n.1870-1819A>G
ENST00000306058.9:c.3884A>G ENSP00000305119.5:p.Gln1295Arg
ENST00000375687.8:c.3899A>G ENSP00000364839.4:p.Gln1300Arg
ENST00000613218.4:c.3899A>G ENSP00000480487.1:p.Gln1300Arg
ENST00000620121.4:c.3899A>G ENSP00000481978.1:p.Gln1300Arg
NM_015338.5:c.3899A>G , LRG_630t1:c.3899A>G NP_056153.2:p.Gln1300Arg
XM_006723727.2:c.3896A>G XP_006723790.1:p.Gln1299Arg
XM_006723728.2:c.3869A>G XP_006723791.1:p.Gln1290Arg
XM_006723730.2:c.3815A>G XP_006723793.1:p.Gln1272Arg
XM_006723732.2:c.3716A>G XP_006723795.1:p.Gln1239Arg
XM_006723733.1:c.3215A>G XP_006723796.1:p.Gln1072Arg
XM_011528647.1:c.4163A>G XP_011526949.1:p.Gln1388Arg
XM_011528648.1:c.4160A>G XP_011526950.1:p.Gln1387Arg
XM_011528649.1:c.4079A>G XP_011526951.1:p.Gln1360Arg
XM_011528650.1:c.4010A>G XP_011526952.1:p.Gln1337Arg
XM_011528651.1:c.3878A>G XP_011526953.1:p.Gln1293Arg
XM_011528652.1:c.3815A>G XP_011526954.1:p.Gln1272Arg
NM_001363734.1:c.3716A>G NP_001350663.1:p.Gln1239Arg
XM_006723727.3:c.3896A>G XP_006723790.1:p.Gln1299Arg
XM_006723728.3:c.3869A>G XP_006723791.1:p.Gln1290Arg
XM_006723730.4:c.3815A>G XP_006723793.1:p.Gln1272Arg
XM_011528648.3:c.4160A>G XP_011526950.1:p.Gln1387Arg
XM_011528652.2:c.3815A>G XP_011526954.1:p.Gln1272Arg
XM_017027704.1:c.3815A>G XP_016883193.1:p.Gln1272Arg
XM_017027705.1:c.3815A>G XP_016883194.1:p.Gln1272Arg
XM_017027706.1:c.3746A>G XP_016883195.1:p.Gln1249Arg
NM_015338.6:c.3899A>G MANE Select NP_056153.2:p.Gln1300Arg