Canonical Allele Identifier: CA2360293376
Community Standard Title: NM_015338.6(ASXL1):c.2989G= (p.Glu997=)
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435701G= , CM000682.2:g.32435701G= GRCh38
NC_000020.10:g.31023504G= , CM000682.1:g.31023504G= GRCh37
NC_000020.9:g.30487165G= NCBI36
NG_027868.1:g.82358G= , LRG_630:g.82358G=

Transcript Alleles

HGVS Amino-acid Change
NM_015338.6:c.2989G= MANE Select NP_056153.2:p.Glu997=
ENST00000375687.10:c.2989G= MANE Select ENSP00000364839.4:p.Glu997=
NM_001363734.1:c.2806G= NP_001350663.1:p.Glu936=
NM_015338.5:c.2989G= , LRG_630t1:c.2989G= NP_056153.2:p.Glu997=
ENST00000306058.9:c.2974G= ENSP00000305119.5:p.Glu992=
ENST00000375687.8:c.2989G= ENSP00000364839.4:p.Glu997=
ENST00000613218.4:c.2989G= ENSP00000480487.1:p.Glu997=
ENST00000620121.4:c.2989G= ENSP00000481978.1:p.Glu997=
ENST00000646985.1:c.2806G= ENSP00000495053.1:p.Glu936=
ENST00000647223.1:n.5342G=
ENST00000651418.1:c.1869+1120G= ENSP00000499150.1:n.1869+1120G=
XM_006723727.2:c.2986G= XP_006723790.1:p.Glu996=
XM_006723727.3:c.2986G= XP_006723790.1:p.Glu996=
XM_006723728.2:c.2959G= XP_006723791.1:p.Glu987=
XM_006723728.3:c.2959G= XP_006723791.1:p.Glu987=
XM_006723730.2:c.2905G= XP_006723793.1:p.Glu969=
XM_006723730.4:c.2905G= XP_006723793.1:p.Glu969=
XM_006723732.2:c.2806G= XP_006723795.1:p.Glu936=
XM_006723733.1:c.2305G= XP_006723796.1:p.Glu769=
XM_011528647.1:c.3253G= XP_011526949.1:p.Glu1085=
XM_011528648.1:c.3250G= XP_011526950.1:p.Glu1084=
XM_011528648.3:c.3250G= XP_011526950.1:p.Glu1084=
XM_011528649.1:c.3169G= XP_011526951.1:p.Glu1057=
XM_011528650.1:c.3100G= XP_011526952.1:p.Glu1034=
XM_011528651.1:c.2968G= XP_011526953.1:p.Glu990=
XM_011528652.1:c.2905G= XP_011526954.1:p.Glu969=
XM_011528652.2:c.2905G= XP_011526954.1:p.Glu969=
XM_017027704.1:c.2905G= XP_016883193.1:p.Glu969=
XM_017027705.1:c.2905G= XP_016883194.1:p.Glu969=
XM_017027706.1:c.2836G= XP_016883195.1:p.Glu946=