Canonical Allele Identifier: CA408564163
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436680T>A , CM000682.2:g.32436680T>A GRCh38
NC_000020.10:g.31024483T>A , CM000682.1:g.31024483T>A GRCh37
NC_000020.9:g.30488144T>A NCBI36
NG_027868.1:g.83337T>A , LRG_630:g.83337T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3968T>A MANE Select ENSP00000364839.4:p.Met1323Lys
ENST00000646985.1:c.3785T>A ENSP00000495053.1:p.Met1262Lys
ENST00000647223.1:n.6321T>A
ENST00000651418.1:c.1870-1750T>A ENSP00000499150.1:n.1870-1750T>A
ENST00000306058.9:c.3953T>A ENSP00000305119.5:p.Met1318Lys
ENST00000375687.8:c.3968T>A ENSP00000364839.4:p.Met1323Lys
ENST00000613218.4:c.3968T>A ENSP00000480487.1:p.Met1323Lys
ENST00000620121.4:c.3968T>A ENSP00000481978.1:p.Met1323Lys
NM_015338.5:c.3968T>A , LRG_630t1:c.3968T>A NP_056153.2:p.Met1323Lys
XM_006723727.2:c.3965T>A XP_006723790.1:p.Met1322Lys
XM_006723728.2:c.3938T>A XP_006723791.1:p.Met1313Lys
XM_006723730.2:c.3884T>A XP_006723793.1:p.Met1295Lys
XM_006723732.2:c.3785T>A XP_006723795.1:p.Met1262Lys
XM_006723733.1:c.3284T>A XP_006723796.1:p.Met1095Lys
XM_011528647.1:c.4232T>A XP_011526949.1:p.Met1411Lys
XM_011528648.1:c.4229T>A XP_011526950.1:p.Met1410Lys
XM_011528649.1:c.4148T>A XP_011526951.1:p.Met1383Lys
XM_011528650.1:c.4079T>A XP_011526952.1:p.Met1360Lys
XM_011528651.1:c.3947T>A XP_011526953.1:p.Met1316Lys
XM_011528652.1:c.3884T>A XP_011526954.1:p.Met1295Lys
NM_001363734.1:c.3785T>A NP_001350663.1:p.Met1262Lys
XM_006723727.3:c.3965T>A XP_006723790.1:p.Met1322Lys
XM_006723728.3:c.3938T>A XP_006723791.1:p.Met1313Lys
XM_006723730.4:c.3884T>A XP_006723793.1:p.Met1295Lys
XM_011528648.3:c.4229T>A XP_011526950.1:p.Met1410Lys
XM_011528652.2:c.3884T>A XP_011526954.1:p.Met1295Lys
XM_017027704.1:c.3884T>A XP_016883193.1:p.Met1295Lys
XM_017027705.1:c.3884T>A XP_016883194.1:p.Met1295Lys
XM_017027706.1:c.3815T>A XP_016883195.1:p.Met1272Lys
NM_015338.6:c.3968T>A MANE Select NP_056153.2:p.Met1323Lys