Canonical Allele Identifier: CA2360293650
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436333C= , CM000682.2:g.32436333C= GRCh38
NC_000020.10:g.31024136C= , CM000682.1:g.31024136C= GRCh37
NC_000020.9:g.30487797C= NCBI36
NG_027868.1:g.82990C= , LRG_630:g.82990C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3621C= MANE Select ENSP00000364839.4:p.Val1207=
ENST00000646985.1:c.3438C= ENSP00000495053.1:p.Val1146=
ENST00000647223.1:n.5974C=
ENST00000651418.1:c.1869+1752C= ENSP00000499150.1:n.1869+1752C=
ENST00000306058.9:c.3606C= ENSP00000305119.5:p.Val1202=
ENST00000375687.8:c.3621C= ENSP00000364839.4:p.Val1207=
ENST00000613218.4:c.3621C= ENSP00000480487.1:p.Val1207=
ENST00000620121.4:c.3621C= ENSP00000481978.1:p.Val1207=
NM_015338.5:c.3621C= , LRG_630t1:c.3621C= NP_056153.2:p.Val1207=
XM_006723727.2:c.3618C= XP_006723790.1:p.Val1206=
XM_006723728.2:c.3591C= XP_006723791.1:p.Val1197=
XM_006723730.2:c.3537C= XP_006723793.1:p.Val1179=
XM_006723732.2:c.3438C= XP_006723795.1:p.Val1146=
XM_006723733.1:c.2937C= XP_006723796.1:p.Val979=
XM_011528647.1:c.3885C= XP_011526949.1:p.Val1295=
XM_011528648.1:c.3882C= XP_011526950.1:p.Val1294=
XM_011528649.1:c.3801C= XP_011526951.1:p.Val1267=
XM_011528650.1:c.3732C= XP_011526952.1:p.Val1244=
XM_011528651.1:c.3600C= XP_011526953.1:p.Val1200=
XM_011528652.1:c.3537C= XP_011526954.1:p.Val1179=
NM_001363734.1:c.3438C= NP_001350663.1:p.Val1146=
XM_006723727.3:c.3618C= XP_006723790.1:p.Val1206=
XM_006723728.3:c.3591C= XP_006723791.1:p.Val1197=
XM_006723730.4:c.3537C= XP_006723793.1:p.Val1179=
XM_011528648.3:c.3882C= XP_011526950.1:p.Val1294=
XM_011528652.2:c.3537C= XP_011526954.1:p.Val1179=
XM_017027704.1:c.3537C= XP_016883193.1:p.Val1179=
XM_017027705.1:c.3537C= XP_016883194.1:p.Val1179=
XM_017027706.1:c.3468C= XP_016883195.1:p.Val1156=
NM_015338.6:c.3621C= MANE Select NP_056153.2:p.Val1207=