Canonical Allele Identifier: CA408563396
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436313C>G , CM000682.2:g.32436313C>G GRCh38
NC_000020.10:g.31024116C>G , CM000682.1:g.31024116C>G GRCh37
NC_000020.9:g.30487777C>G NCBI36
NG_027868.1:g.82970C>G , LRG_630:g.82970C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3601C>G MANE Select ENSP00000364839.4:p.Gln1201Glu
ENST00000646985.1:c.3418C>G ENSP00000495053.1:p.Gln1140Glu
ENST00000647223.1:n.5954C>G
ENST00000651418.1:c.1869+1732C>G ENSP00000499150.1:n.1869+1732C>G
ENST00000306058.9:c.3586C>G ENSP00000305119.5:p.Gln1196Glu
ENST00000375687.8:c.3601C>G ENSP00000364839.4:p.Gln1201Glu
ENST00000613218.4:c.3601C>G ENSP00000480487.1:p.Gln1201Glu
ENST00000620121.4:c.3601C>G ENSP00000481978.1:p.Gln1201Glu
NM_015338.5:c.3601C>G , LRG_630t1:c.3601C>G NP_056153.2:p.Gln1201Glu
XM_006723727.2:c.3598C>G XP_006723790.1:p.Gln1200Glu
XM_006723728.2:c.3571C>G XP_006723791.1:p.Gln1191Glu
XM_006723730.2:c.3517C>G XP_006723793.1:p.Gln1173Glu
XM_006723732.2:c.3418C>G XP_006723795.1:p.Gln1140Glu
XM_006723733.1:c.2917C>G XP_006723796.1:p.Gln973Glu
XM_011528647.1:c.3865C>G XP_011526949.1:p.Gln1289Glu
XM_011528648.1:c.3862C>G XP_011526950.1:p.Gln1288Glu
XM_011528649.1:c.3781C>G XP_011526951.1:p.Gln1261Glu
XM_011528650.1:c.3712C>G XP_011526952.1:p.Gln1238Glu
XM_011528651.1:c.3580C>G XP_011526953.1:p.Gln1194Glu
XM_011528652.1:c.3517C>G XP_011526954.1:p.Gln1173Glu
NM_001363734.1:c.3418C>G NP_001350663.1:p.Gln1140Glu
XM_006723727.3:c.3598C>G XP_006723790.1:p.Gln1200Glu
XM_006723728.3:c.3571C>G XP_006723791.1:p.Gln1191Glu
XM_006723730.4:c.3517C>G XP_006723793.1:p.Gln1173Glu
XM_011528648.3:c.3862C>G XP_011526950.1:p.Gln1288Glu
XM_011528652.2:c.3517C>G XP_011526954.1:p.Gln1173Glu
XM_017027704.1:c.3517C>G XP_016883193.1:p.Gln1173Glu
XM_017027705.1:c.3517C>G XP_016883194.1:p.Gln1173Glu
XM_017027706.1:c.3448C>G XP_016883195.1:p.Gln1150Glu
NM_015338.6:c.3601C>G MANE Select NP_056153.2:p.Gln1201Glu