Canonical Allele Identifier: CA408563011
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436125T>G , CM000682.2:g.32436125T>G GRCh38
NC_000020.10:g.31023928T>G , CM000682.1:g.31023928T>G GRCh37
NC_000020.9:g.30487589T>G NCBI36
NG_027868.1:g.82782T>G , LRG_630:g.82782T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3413T>G MANE Select ENSP00000364839.4:p.Leu1138Arg
ENST00000646985.1:c.3230T>G ENSP00000495053.1:p.Leu1077Arg
ENST00000647223.1:n.5766T>G
ENST00000651418.1:c.1869+1544T>G ENSP00000499150.1:n.1869+1544T>G
ENST00000306058.9:c.3398T>G ENSP00000305119.5:p.Leu1133Arg
ENST00000375687.8:c.3413T>G ENSP00000364839.4:p.Leu1138Arg
ENST00000613218.4:c.3413T>G ENSP00000480487.1:p.Leu1138Arg
ENST00000620121.4:c.3413T>G ENSP00000481978.1:p.Leu1138Arg
NM_015338.5:c.3413T>G , LRG_630t1:c.3413T>G NP_056153.2:p.Leu1138Arg
XM_006723727.2:c.3410T>G XP_006723790.1:p.Leu1137Arg
XM_006723728.2:c.3383T>G XP_006723791.1:p.Leu1128Arg
XM_006723730.2:c.3329T>G XP_006723793.1:p.Leu1110Arg
XM_006723732.2:c.3230T>G XP_006723795.1:p.Leu1077Arg
XM_006723733.1:c.2729T>G XP_006723796.1:p.Leu910Arg
XM_011528647.1:c.3677T>G XP_011526949.1:p.Leu1226Arg
XM_011528648.1:c.3674T>G XP_011526950.1:p.Leu1225Arg
XM_011528649.1:c.3593T>G XP_011526951.1:p.Leu1198Arg
XM_011528650.1:c.3524T>G XP_011526952.1:p.Leu1175Arg
XM_011528651.1:c.3392T>G XP_011526953.1:p.Leu1131Arg
XM_011528652.1:c.3329T>G XP_011526954.1:p.Leu1110Arg
NM_001363734.1:c.3230T>G NP_001350663.1:p.Leu1077Arg
XM_006723727.3:c.3410T>G XP_006723790.1:p.Leu1137Arg
XM_006723728.3:c.3383T>G XP_006723791.1:p.Leu1128Arg
XM_006723730.4:c.3329T>G XP_006723793.1:p.Leu1110Arg
XM_011528648.3:c.3674T>G XP_011526950.1:p.Leu1225Arg
XM_011528652.2:c.3329T>G XP_011526954.1:p.Leu1110Arg
XM_017027704.1:c.3329T>G XP_016883193.1:p.Leu1110Arg
XM_017027705.1:c.3329T>G XP_016883194.1:p.Leu1110Arg
XM_017027706.1:c.3260T>G XP_016883195.1:p.Leu1087Arg
NM_015338.6:c.3413T>G MANE Select NP_056153.2:p.Leu1138Arg