Canonical Allele Identifier: CA408563322
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436274C>T , CM000682.2:g.32436274C>T GRCh38
NC_000020.10:g.31024077C>T , CM000682.1:g.31024077C>T GRCh37
NC_000020.9:g.30487738C>T NCBI36
NG_027868.1:g.82931C>T , LRG_630:g.82931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3562C>T MANE Select ENSP00000364839.4:p.Leu1188Phe
ENST00000646985.1:c.3379C>T ENSP00000495053.1:p.Leu1127Phe
ENST00000647223.1:n.5915C>T
ENST00000651418.1:c.1869+1693C>T ENSP00000499150.1:n.1869+1693C>T
ENST00000306058.9:c.3547C>T ENSP00000305119.5:p.Leu1183Phe
ENST00000375687.8:c.3562C>T ENSP00000364839.4:p.Leu1188Phe
ENST00000613218.4:c.3562C>T ENSP00000480487.1:p.Leu1188Phe
ENST00000620121.4:c.3562C>T ENSP00000481978.1:p.Leu1188Phe
NM_015338.5:c.3562C>T , LRG_630t1:c.3562C>T NP_056153.2:p.Leu1188Phe
XM_006723727.2:c.3559C>T XP_006723790.1:p.Leu1187Phe
XM_006723728.2:c.3532C>T XP_006723791.1:p.Leu1178Phe
XM_006723730.2:c.3478C>T XP_006723793.1:p.Leu1160Phe
XM_006723732.2:c.3379C>T XP_006723795.1:p.Leu1127Phe
XM_006723733.1:c.2878C>T XP_006723796.1:p.Leu960Phe
XM_011528647.1:c.3826C>T XP_011526949.1:p.Leu1276Phe
XM_011528648.1:c.3823C>T XP_011526950.1:p.Leu1275Phe
XM_011528649.1:c.3742C>T XP_011526951.1:p.Leu1248Phe
XM_011528650.1:c.3673C>T XP_011526952.1:p.Leu1225Phe
XM_011528651.1:c.3541C>T XP_011526953.1:p.Leu1181Phe
XM_011528652.1:c.3478C>T XP_011526954.1:p.Leu1160Phe
NM_001363734.1:c.3379C>T NP_001350663.1:p.Leu1127Phe
XM_006723727.3:c.3559C>T XP_006723790.1:p.Leu1187Phe
XM_006723728.3:c.3532C>T XP_006723791.1:p.Leu1178Phe
XM_006723730.4:c.3478C>T XP_006723793.1:p.Leu1160Phe
XM_011528648.3:c.3823C>T XP_011526950.1:p.Leu1275Phe
XM_011528652.2:c.3478C>T XP_011526954.1:p.Leu1160Phe
XM_017027704.1:c.3478C>T XP_016883193.1:p.Leu1160Phe
XM_017027705.1:c.3478C>T XP_016883194.1:p.Leu1160Phe
XM_017027706.1:c.3409C>T XP_016883195.1:p.Leu1137Phe
NM_015338.6:c.3562C>T MANE Select NP_056153.2:p.Leu1188Phe