Canonical Allele Identifier: CA2360293848
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436753T= , CM000682.2:g.32436753T= GRCh38
NC_000020.10:g.31024556T= , CM000682.1:g.31024556T= GRCh37
NC_000020.9:g.30488217T= NCBI36
NG_027868.1:g.83410T= , LRG_630:g.83410T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4041T= MANE Select ENSP00000364839.4:p.Gly1347=
ENST00000646985.1:c.3858T= ENSP00000495053.1:p.Gly1286=
ENST00000647223.1:n.6394T=
ENST00000651418.1:c.1870-1677T= ENSP00000499150.1:n.1870-1677T=
ENST00000306058.9:c.4026T= ENSP00000305119.5:p.Gly1342=
ENST00000375687.8:c.4041T= ENSP00000364839.4:p.Gly1347=
ENST00000613218.4:c.4041T= ENSP00000480487.1:p.Gly1347=
ENST00000620121.4:c.4041T= ENSP00000481978.1:p.Gly1347=
NM_015338.5:c.4041T= , LRG_630t1:c.4041T= NP_056153.2:p.Gly1347=
XM_006723727.2:c.4038T= XP_006723790.1:p.Gly1346=
XM_006723728.2:c.4011T= XP_006723791.1:p.Gly1337=
XM_006723730.2:c.3957T= XP_006723793.1:p.Gly1319=
XM_006723732.2:c.3858T= XP_006723795.1:p.Gly1286=
XM_006723733.1:c.3357T= XP_006723796.1:p.Gly1119=
XM_011528647.1:c.4305T= XP_011526949.1:p.Gly1435=
XM_011528648.1:c.4302T= XP_011526950.1:p.Gly1434=
XM_011528649.1:c.4221T= XP_011526951.1:p.Gly1407=
XM_011528650.1:c.4152T= XP_011526952.1:p.Gly1384=
XM_011528651.1:c.4020T= XP_011526953.1:p.Gly1340=
XM_011528652.1:c.3957T= XP_011526954.1:p.Gly1319=
NM_001363734.1:c.3858T= NP_001350663.1:p.Gly1286=
XM_006723727.3:c.4038T= XP_006723790.1:p.Gly1346=
XM_006723728.3:c.4011T= XP_006723791.1:p.Gly1337=
XM_006723730.4:c.3957T= XP_006723793.1:p.Gly1319=
XM_011528648.3:c.4302T= XP_011526950.1:p.Gly1434=
XM_011528652.2:c.3957T= XP_011526954.1:p.Gly1319=
XM_017027704.1:c.3957T= XP_016883193.1:p.Gly1319=
XM_017027705.1:c.3957T= XP_016883194.1:p.Gly1319=
XM_017027706.1:c.3888T= XP_016883195.1:p.Gly1296=
NM_015338.6:c.4041T= MANE Select NP_056153.2:p.Gly1347=