Canonical Allele Identifier: CA408563642
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436426T>A , CM000682.2:g.32436426T>A GRCh38
NC_000020.10:g.31024229T>A , CM000682.1:g.31024229T>A GRCh37
NC_000020.9:g.30487890T>A NCBI36
NG_027868.1:g.83083T>A , LRG_630:g.83083T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3714T>A MANE Select ENSP00000364839.4:p.Phe1238Leu
ENST00000646985.1:c.3531T>A ENSP00000495053.1:p.Phe1177Leu
ENST00000647223.1:n.6067T>A
ENST00000651418.1:c.1869+1845T>A ENSP00000499150.1:n.1869+1845T>A
ENST00000306058.9:c.3699T>A ENSP00000305119.5:p.Phe1233Leu
ENST00000375687.8:c.3714T>A ENSP00000364839.4:p.Phe1238Leu
ENST00000613218.4:c.3714T>A ENSP00000480487.1:p.Phe1238Leu
ENST00000620121.4:c.3714T>A ENSP00000481978.1:p.Phe1238Leu
NM_015338.5:c.3714T>A , LRG_630t1:c.3714T>A NP_056153.2:p.Phe1238Leu
XM_006723727.2:c.3711T>A XP_006723790.1:p.Phe1237Leu
XM_006723728.2:c.3684T>A XP_006723791.1:p.Phe1228Leu
XM_006723730.2:c.3630T>A XP_006723793.1:p.Phe1210Leu
XM_006723732.2:c.3531T>A XP_006723795.1:p.Phe1177Leu
XM_006723733.1:c.3030T>A XP_006723796.1:p.Phe1010Leu
XM_011528647.1:c.3978T>A XP_011526949.1:p.Phe1326Leu
XM_011528648.1:c.3975T>A XP_011526950.1:p.Phe1325Leu
XM_011528649.1:c.3894T>A XP_011526951.1:p.Phe1298Leu
XM_011528650.1:c.3825T>A XP_011526952.1:p.Phe1275Leu
XM_011528651.1:c.3693T>A XP_011526953.1:p.Phe1231Leu
XM_011528652.1:c.3630T>A XP_011526954.1:p.Phe1210Leu
NM_001363734.1:c.3531T>A NP_001350663.1:p.Phe1177Leu
XM_006723727.3:c.3711T>A XP_006723790.1:p.Phe1237Leu
XM_006723728.3:c.3684T>A XP_006723791.1:p.Phe1228Leu
XM_006723730.4:c.3630T>A XP_006723793.1:p.Phe1210Leu
XM_011528648.3:c.3975T>A XP_011526950.1:p.Phe1325Leu
XM_011528652.2:c.3630T>A XP_011526954.1:p.Phe1210Leu
XM_017027704.1:c.3630T>A XP_016883193.1:p.Phe1210Leu
XM_017027705.1:c.3630T>A XP_016883194.1:p.Phe1210Leu
XM_017027706.1:c.3561T>A XP_016883195.1:p.Phe1187Leu
NM_015338.6:c.3714T>A MANE Select NP_056153.2:p.Phe1238Leu