Canonical Allele Identifier: CA408563081
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436160G>T , CM000682.2:g.32436160G>T GRCh38
NC_000020.10:g.31023963G>T , CM000682.1:g.31023963G>T GRCh37
NC_000020.9:g.30487624G>T NCBI36
NG_027868.1:g.82817G>T , LRG_630:g.82817G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3448G>T MANE Select ENSP00000364839.4:p.Gly1150Ter
ENST00000646985.1:c.3265G>T ENSP00000495053.1:p.Gly1089Ter
ENST00000647223.1:n.5801G>T
ENST00000651418.1:c.1869+1579G>T ENSP00000499150.1:n.1869+1579G>T
ENST00000306058.9:c.3433G>T ENSP00000305119.5:p.Gly1145Ter
ENST00000375687.8:c.3448G>T ENSP00000364839.4:p.Gly1150Ter
ENST00000613218.4:c.3448G>T ENSP00000480487.1:p.Gly1150Ter
ENST00000620121.4:c.3448G>T ENSP00000481978.1:p.Gly1150Ter
NM_015338.5:c.3448G>T , LRG_630t1:c.3448G>T NP_056153.2:p.Gly1150Ter
XM_006723727.2:c.3445G>T XP_006723790.1:p.Gly1149Ter
XM_006723728.2:c.3418G>T XP_006723791.1:p.Gly1140Ter
XM_006723730.2:c.3364G>T XP_006723793.1:p.Gly1122Ter
XM_006723732.2:c.3265G>T XP_006723795.1:p.Gly1089Ter
XM_006723733.1:c.2764G>T XP_006723796.1:p.Gly922Ter
XM_011528647.1:c.3712G>T XP_011526949.1:p.Gly1238Ter
XM_011528648.1:c.3709G>T XP_011526950.1:p.Gly1237Ter
XM_011528649.1:c.3628G>T XP_011526951.1:p.Gly1210Ter
XM_011528650.1:c.3559G>T XP_011526952.1:p.Gly1187Ter
XM_011528651.1:c.3427G>T XP_011526953.1:p.Gly1143Ter
XM_011528652.1:c.3364G>T XP_011526954.1:p.Gly1122Ter
NM_001363734.1:c.3265G>T NP_001350663.1:p.Gly1089Ter
XM_006723727.3:c.3445G>T XP_006723790.1:p.Gly1149Ter
XM_006723728.3:c.3418G>T XP_006723791.1:p.Gly1140Ter
XM_006723730.4:c.3364G>T XP_006723793.1:p.Gly1122Ter
XM_011528648.3:c.3709G>T XP_011526950.1:p.Gly1237Ter
XM_011528652.2:c.3364G>T XP_011526954.1:p.Gly1122Ter
XM_017027704.1:c.3364G>T XP_016883193.1:p.Gly1122Ter
XM_017027705.1:c.3364G>T XP_016883194.1:p.Gly1122Ter
XM_017027706.1:c.3295G>T XP_016883195.1:p.Gly1099Ter
NM_015338.6:c.3448G>T MANE Select NP_056153.2:p.Gly1150Ter