Canonical Allele Identifier: CA2360293858
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436764C= , CM000682.2:g.32436764C= GRCh38
NC_000020.10:g.31024567C= , CM000682.1:g.31024567C= GRCh37
NC_000020.9:g.30488228C= NCBI36
NG_027868.1:g.83421C= , LRG_630:g.83421C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4052C= MANE Select ENSP00000364839.4:p.Thr1351=
ENST00000646985.1:c.3869C= ENSP00000495053.1:p.Thr1290=
ENST00000647223.1:n.6405C=
ENST00000651418.1:c.1870-1666C= ENSP00000499150.1:n.1870-1666C=
ENST00000306058.9:c.4037C= ENSP00000305119.5:p.Thr1346=
ENST00000375687.8:c.4052C= ENSP00000364839.4:p.Thr1351=
ENST00000613218.4:c.4052C= ENSP00000480487.1:p.Thr1351=
ENST00000620121.4:c.4052C= ENSP00000481978.1:p.Thr1351=
NM_015338.5:c.4052C= , LRG_630t1:c.4052C= NP_056153.2:p.Thr1351=
XM_006723727.2:c.4049C= XP_006723790.1:p.Thr1350=
XM_006723728.2:c.4022C= XP_006723791.1:p.Thr1341=
XM_006723730.2:c.3968C= XP_006723793.1:p.Thr1323=
XM_006723732.2:c.3869C= XP_006723795.1:p.Thr1290=
XM_006723733.1:c.3368C= XP_006723796.1:p.Thr1123=
XM_011528647.1:c.4316C= XP_011526949.1:p.Thr1439=
XM_011528648.1:c.4313C= XP_011526950.1:p.Thr1438=
XM_011528649.1:c.4232C= XP_011526951.1:p.Thr1411=
XM_011528650.1:c.4163C= XP_011526952.1:p.Thr1388=
XM_011528651.1:c.4031C= XP_011526953.1:p.Thr1344=
XM_011528652.1:c.3968C= XP_011526954.1:p.Thr1323=
NM_001363734.1:c.3869C= NP_001350663.1:p.Thr1290=
XM_006723727.3:c.4049C= XP_006723790.1:p.Thr1350=
XM_006723728.3:c.4022C= XP_006723791.1:p.Thr1341=
XM_006723730.4:c.3968C= XP_006723793.1:p.Thr1323=
XM_011528648.3:c.4313C= XP_011526950.1:p.Thr1438=
XM_011528652.2:c.3968C= XP_011526954.1:p.Thr1323=
XM_017027704.1:c.3968C= XP_016883193.1:p.Thr1323=
XM_017027705.1:c.3968C= XP_016883194.1:p.Thr1323=
XM_017027706.1:c.3899C= XP_016883195.1:p.Thr1300=
NM_015338.6:c.4052C= MANE Select NP_056153.2:p.Thr1351=