Canonical Allele Identifier: CA2360293477
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435963G= , CM000682.2:g.32435963G= GRCh38
NC_000020.10:g.31023766G= , CM000682.1:g.31023766G= GRCh37
NC_000020.9:g.30487427G= NCBI36
NG_027868.1:g.82620G= , LRG_630:g.82620G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3251G= MANE Select ENSP00000364839.4:p.Ser1084=
ENST00000646985.1:c.3068G= ENSP00000495053.1:p.Ser1023=
ENST00000647223.1:n.5604G=
ENST00000651418.1:c.1869+1382G= ENSP00000499150.1:n.1869+1382G=
ENST00000306058.9:c.3236G= ENSP00000305119.5:p.Ser1079=
ENST00000375687.8:c.3251G= ENSP00000364839.4:p.Ser1084=
ENST00000613218.4:c.3251G= ENSP00000480487.1:p.Ser1084=
ENST00000620121.4:c.3251G= ENSP00000481978.1:p.Ser1084=
NM_015338.5:c.3251G= , LRG_630t1:c.3251G= NP_056153.2:p.Ser1084=
XM_006723727.2:c.3248G= XP_006723790.1:p.Ser1083=
XM_006723728.2:c.3221G= XP_006723791.1:p.Ser1074=
XM_006723730.2:c.3167G= XP_006723793.1:p.Ser1056=
XM_006723732.2:c.3068G= XP_006723795.1:p.Ser1023=
XM_006723733.1:c.2567G= XP_006723796.1:p.Ser856=
XM_011528647.1:c.3515G= XP_011526949.1:p.Ser1172=
XM_011528648.1:c.3512G= XP_011526950.1:p.Ser1171=
XM_011528649.1:c.3431G= XP_011526951.1:p.Ser1144=
XM_011528650.1:c.3362G= XP_011526952.1:p.Ser1121=
XM_011528651.1:c.3230G= XP_011526953.1:p.Ser1077=
XM_011528652.1:c.3167G= XP_011526954.1:p.Ser1056=
NM_001363734.1:c.3068G= NP_001350663.1:p.Ser1023=
XM_006723727.3:c.3248G= XP_006723790.1:p.Ser1083=
XM_006723728.3:c.3221G= XP_006723791.1:p.Ser1074=
XM_006723730.4:c.3167G= XP_006723793.1:p.Ser1056=
XM_011528648.3:c.3512G= XP_011526950.1:p.Ser1171=
XM_011528652.2:c.3167G= XP_011526954.1:p.Ser1056=
XM_017027704.1:c.3167G= XP_016883193.1:p.Ser1056=
XM_017027705.1:c.3167G= XP_016883194.1:p.Ser1056=
XM_017027706.1:c.3098G= XP_016883195.1:p.Ser1033=
NM_015338.6:c.3251G= MANE Select NP_056153.2:p.Ser1084=