Canonical Allele Identifier: CA2360293511
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436056G= , CM000682.2:g.32436056G= GRCh38
NC_000020.10:g.31023859G= , CM000682.1:g.31023859G= GRCh37
NC_000020.9:g.30487520G= NCBI36
NG_027868.1:g.82713G= , LRG_630:g.82713G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3344G= MANE Select ENSP00000364839.4:p.Ser1115=
ENST00000646985.1:c.3161G= ENSP00000495053.1:p.Ser1054=
ENST00000647223.1:n.5697G=
ENST00000651418.1:c.1869+1475G= ENSP00000499150.1:n.1869+1475G=
ENST00000306058.9:c.3329G= ENSP00000305119.5:p.Ser1110=
ENST00000375687.8:c.3344G= ENSP00000364839.4:p.Ser1115=
ENST00000613218.4:c.3344G= ENSP00000480487.1:p.Ser1115=
ENST00000620121.4:c.3344G= ENSP00000481978.1:p.Ser1115=
NM_015338.5:c.3344G= , LRG_630t1:c.3344G= NP_056153.2:p.Ser1115=
XM_006723727.2:c.3341G= XP_006723790.1:p.Ser1114=
XM_006723728.2:c.3314G= XP_006723791.1:p.Ser1105=
XM_006723730.2:c.3260G= XP_006723793.1:p.Ser1087=
XM_006723732.2:c.3161G= XP_006723795.1:p.Ser1054=
XM_006723733.1:c.2660G= XP_006723796.1:p.Ser887=
XM_011528647.1:c.3608G= XP_011526949.1:p.Ser1203=
XM_011528648.1:c.3605G= XP_011526950.1:p.Ser1202=
XM_011528649.1:c.3524G= XP_011526951.1:p.Ser1175=
XM_011528650.1:c.3455G= XP_011526952.1:p.Ser1152=
XM_011528651.1:c.3323G= XP_011526953.1:p.Ser1108=
XM_011528652.1:c.3260G= XP_011526954.1:p.Ser1087=
NM_001363734.1:c.3161G= NP_001350663.1:p.Ser1054=
XM_006723727.3:c.3341G= XP_006723790.1:p.Ser1114=
XM_006723728.3:c.3314G= XP_006723791.1:p.Ser1105=
XM_006723730.4:c.3260G= XP_006723793.1:p.Ser1087=
XM_011528648.3:c.3605G= XP_011526950.1:p.Ser1202=
XM_011528652.2:c.3260G= XP_011526954.1:p.Ser1087=
XM_017027704.1:c.3260G= XP_016883193.1:p.Ser1087=
XM_017027705.1:c.3260G= XP_016883194.1:p.Ser1087=
XM_017027706.1:c.3191G= XP_016883195.1:p.Ser1064=
NM_015338.6:c.3344G= MANE Select NP_056153.2:p.Ser1115=