Canonical Allele Identifier: CA408564448
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436815A>G , CM000682.2:g.32436815A>G GRCh38
NC_000020.10:g.31024618A>G , CM000682.1:g.31024618A>G GRCh37
NC_000020.9:g.30488279A>G NCBI36
NG_027868.1:g.83472A>G , LRG_630:g.83472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4103A>G MANE Select ENSP00000364839.4:p.Lys1368Arg
ENST00000646985.1:c.3920A>G ENSP00000495053.1:p.Lys1307Arg
ENST00000647223.1:n.6456A>G
ENST00000651418.1:c.1870-1615A>G ENSP00000499150.1:n.1870-1615A>G
ENST00000306058.9:c.4088A>G ENSP00000305119.5:p.Lys1363Arg
ENST00000375687.8:c.4103A>G ENSP00000364839.4:p.Lys1368Arg
ENST00000613218.4:c.4103A>G ENSP00000480487.1:p.Lys1368Arg
ENST00000620121.4:c.4103A>G ENSP00000481978.1:p.Lys1368Arg
NM_015338.5:c.4103A>G , LRG_630t1:c.4103A>G NP_056153.2:p.Lys1368Arg
XM_006723727.2:c.4100A>G XP_006723790.1:p.Lys1367Arg
XM_006723728.2:c.4073A>G XP_006723791.1:p.Lys1358Arg
XM_006723730.2:c.4019A>G XP_006723793.1:p.Lys1340Arg
XM_006723732.2:c.3920A>G XP_006723795.1:p.Lys1307Arg
XM_006723733.1:c.3419A>G XP_006723796.1:p.Lys1140Arg
XM_011528647.1:c.4367A>G XP_011526949.1:p.Lys1456Arg
XM_011528648.1:c.4364A>G XP_011526950.1:p.Lys1455Arg
XM_011528649.1:c.4283A>G XP_011526951.1:p.Lys1428Arg
XM_011528650.1:c.4214A>G XP_011526952.1:p.Lys1405Arg
XM_011528651.1:c.4082A>G XP_011526953.1:p.Lys1361Arg
XM_011528652.1:c.4019A>G XP_011526954.1:p.Lys1340Arg
NM_001363734.1:c.3920A>G NP_001350663.1:p.Lys1307Arg
XM_006723727.3:c.4100A>G XP_006723790.1:p.Lys1367Arg
XM_006723728.3:c.4073A>G XP_006723791.1:p.Lys1358Arg
XM_006723730.4:c.4019A>G XP_006723793.1:p.Lys1340Arg
XM_011528648.3:c.4364A>G XP_011526950.1:p.Lys1455Arg
XM_011528652.2:c.4019A>G XP_011526954.1:p.Lys1340Arg
XM_017027704.1:c.4019A>G XP_016883193.1:p.Lys1340Arg
XM_017027705.1:c.4019A>G XP_016883194.1:p.Lys1340Arg
XM_017027706.1:c.3950A>G XP_016883195.1:p.Lys1317Arg
NM_015338.6:c.4103A>G MANE Select NP_056153.2:p.Lys1368Arg