Canonical Allele Identifier: CA408562976
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436108A>T , CM000682.2:g.32436108A>T GRCh38
NC_000020.10:g.31023911A>T , CM000682.1:g.31023911A>T GRCh37
NC_000020.9:g.30487572A>T NCBI36
NG_027868.1:g.82765A>T , LRG_630:g.82765A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3396A>T MANE Select ENSP00000364839.4:p.Glu1132Asp
ENST00000646985.1:c.3213A>T ENSP00000495053.1:p.Glu1071Asp
ENST00000647223.1:n.5749A>T
ENST00000651418.1:c.1869+1527A>T ENSP00000499150.1:n.1869+1527A>T
ENST00000306058.9:c.3381A>T ENSP00000305119.5:p.Glu1127Asp
ENST00000375687.8:c.3396A>T ENSP00000364839.4:p.Glu1132Asp
ENST00000613218.4:c.3396A>T ENSP00000480487.1:p.Glu1132Asp
ENST00000620121.4:c.3396A>T ENSP00000481978.1:p.Glu1132Asp
NM_015338.5:c.3396A>T , LRG_630t1:c.3396A>T NP_056153.2:p.Glu1132Asp
XM_006723727.2:c.3393A>T XP_006723790.1:p.Glu1131Asp
XM_006723728.2:c.3366A>T XP_006723791.1:p.Glu1122Asp
XM_006723730.2:c.3312A>T XP_006723793.1:p.Glu1104Asp
XM_006723732.2:c.3213A>T XP_006723795.1:p.Glu1071Asp
XM_006723733.1:c.2712A>T XP_006723796.1:p.Glu904Asp
XM_011528647.1:c.3660A>T XP_011526949.1:p.Glu1220Asp
XM_011528648.1:c.3657A>T XP_011526950.1:p.Glu1219Asp
XM_011528649.1:c.3576A>T XP_011526951.1:p.Glu1192Asp
XM_011528650.1:c.3507A>T XP_011526952.1:p.Glu1169Asp
XM_011528651.1:c.3375A>T XP_011526953.1:p.Glu1125Asp
XM_011528652.1:c.3312A>T XP_011526954.1:p.Glu1104Asp
NM_001363734.1:c.3213A>T NP_001350663.1:p.Glu1071Asp
XM_006723727.3:c.3393A>T XP_006723790.1:p.Glu1131Asp
XM_006723728.3:c.3366A>T XP_006723791.1:p.Glu1122Asp
XM_006723730.4:c.3312A>T XP_006723793.1:p.Glu1104Asp
XM_011528648.3:c.3657A>T XP_011526950.1:p.Glu1219Asp
XM_011528652.2:c.3312A>T XP_011526954.1:p.Glu1104Asp
XM_017027704.1:c.3312A>T XP_016883193.1:p.Glu1104Asp
XM_017027705.1:c.3312A>T XP_016883194.1:p.Glu1104Asp
XM_017027706.1:c.3243A>T XP_016883195.1:p.Glu1081Asp
NM_015338.6:c.3396A>T MANE Select NP_056153.2:p.Glu1132Asp