Canonical Allele Identifier: CA2360293546
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436128C= , CM000682.2:g.32436128C= GRCh38
NC_000020.10:g.31023931C= , CM000682.1:g.31023931C= GRCh37
NC_000020.9:g.30487592C= NCBI36
NG_027868.1:g.82785C= , LRG_630:g.82785C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3416C= MANE Select ENSP00000364839.4:p.Thr1139=
ENST00000646985.1:c.3233C= ENSP00000495053.1:p.Thr1078=
ENST00000647223.1:n.5769C=
ENST00000651418.1:c.1869+1547C= ENSP00000499150.1:n.1869+1547C=
ENST00000306058.9:c.3401C= ENSP00000305119.5:p.Thr1134=
ENST00000375687.8:c.3416C= ENSP00000364839.4:p.Thr1139=
ENST00000613218.4:c.3416C= ENSP00000480487.1:p.Thr1139=
ENST00000620121.4:c.3416C= ENSP00000481978.1:p.Thr1139=
NM_015338.5:c.3416C= , LRG_630t1:c.3416C= NP_056153.2:p.Thr1139=
XM_006723727.2:c.3413C= XP_006723790.1:p.Thr1138=
XM_006723728.2:c.3386C= XP_006723791.1:p.Thr1129=
XM_006723730.2:c.3332C= XP_006723793.1:p.Thr1111=
XM_006723732.2:c.3233C= XP_006723795.1:p.Thr1078=
XM_006723733.1:c.2732C= XP_006723796.1:p.Thr911=
XM_011528647.1:c.3680C= XP_011526949.1:p.Thr1227=
XM_011528648.1:c.3677C= XP_011526950.1:p.Thr1226=
XM_011528649.1:c.3596C= XP_011526951.1:p.Thr1199=
XM_011528650.1:c.3527C= XP_011526952.1:p.Thr1176=
XM_011528651.1:c.3395C= XP_011526953.1:p.Thr1132=
XM_011528652.1:c.3332C= XP_011526954.1:p.Thr1111=
NM_001363734.1:c.3233C= NP_001350663.1:p.Thr1078=
XM_006723727.3:c.3413C= XP_006723790.1:p.Thr1138=
XM_006723728.3:c.3386C= XP_006723791.1:p.Thr1129=
XM_006723730.4:c.3332C= XP_006723793.1:p.Thr1111=
XM_011528648.3:c.3677C= XP_011526950.1:p.Thr1226=
XM_011528652.2:c.3332C= XP_011526954.1:p.Thr1111=
XM_017027704.1:c.3332C= XP_016883193.1:p.Thr1111=
XM_017027705.1:c.3332C= XP_016883194.1:p.Thr1111=
XM_017027706.1:c.3263C= XP_016883195.1:p.Thr1088=
NM_015338.6:c.3416C= MANE Select NP_056153.2:p.Thr1139=