Canonical Allele Identifier: CA408564216
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436706G>T , CM000682.2:g.32436706G>T GRCh38
NC_000020.10:g.31024509G>T , CM000682.1:g.31024509G>T GRCh37
NC_000020.9:g.30488170G>T NCBI36
NG_027868.1:g.83363G>T , LRG_630:g.83363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3994G>T MANE Select ENSP00000364839.4:p.Val1332Phe
ENST00000646985.1:c.3811G>T ENSP00000495053.1:p.Val1271Phe
ENST00000647223.1:n.6347G>T
ENST00000651418.1:c.1870-1724G>T ENSP00000499150.1:n.1870-1724G>T
ENST00000306058.9:c.3979G>T ENSP00000305119.5:p.Val1327Phe
ENST00000375687.8:c.3994G>T ENSP00000364839.4:p.Val1332Phe
ENST00000613218.4:c.3994G>T ENSP00000480487.1:p.Val1332Phe
ENST00000620121.4:c.3994G>T ENSP00000481978.1:p.Val1332Phe
NM_015338.5:c.3994G>T , LRG_630t1:c.3994G>T NP_056153.2:p.Val1332Phe
XM_006723727.2:c.3991G>T XP_006723790.1:p.Val1331Phe
XM_006723728.2:c.3964G>T XP_006723791.1:p.Val1322Phe
XM_006723730.2:c.3910G>T XP_006723793.1:p.Val1304Phe
XM_006723732.2:c.3811G>T XP_006723795.1:p.Val1271Phe
XM_006723733.1:c.3310G>T XP_006723796.1:p.Val1104Phe
XM_011528647.1:c.4258G>T XP_011526949.1:p.Val1420Phe
XM_011528648.1:c.4255G>T XP_011526950.1:p.Val1419Phe
XM_011528649.1:c.4174G>T XP_011526951.1:p.Val1392Phe
XM_011528650.1:c.4105G>T XP_011526952.1:p.Val1369Phe
XM_011528651.1:c.3973G>T XP_011526953.1:p.Val1325Phe
XM_011528652.1:c.3910G>T XP_011526954.1:p.Val1304Phe
NM_001363734.1:c.3811G>T NP_001350663.1:p.Val1271Phe
XM_006723727.3:c.3991G>T XP_006723790.1:p.Val1331Phe
XM_006723728.3:c.3964G>T XP_006723791.1:p.Val1322Phe
XM_006723730.4:c.3910G>T XP_006723793.1:p.Val1304Phe
XM_011528648.3:c.4255G>T XP_011526950.1:p.Val1419Phe
XM_011528652.2:c.3910G>T XP_011526954.1:p.Val1304Phe
XM_017027704.1:c.3910G>T XP_016883193.1:p.Val1304Phe
XM_017027705.1:c.3910G>T XP_016883194.1:p.Val1304Phe
XM_017027706.1:c.3841G>T XP_016883195.1:p.Val1281Phe
NM_015338.6:c.3994G>T MANE Select NP_056153.2:p.Val1332Phe