Canonical Allele Identifier: CA408563995
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436595A>T , CM000682.2:g.32436595A>T GRCh38
NC_000020.10:g.31024398A>T , CM000682.1:g.31024398A>T GRCh37
NC_000020.9:g.30488059A>T NCBI36
NG_027868.1:g.83252A>T , LRG_630:g.83252A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3883A>T MANE Select ENSP00000364839.4:p.Ser1295Cys
ENST00000646985.1:c.3700A>T ENSP00000495053.1:p.Ser1234Cys
ENST00000647223.1:n.6236A>T
ENST00000651418.1:c.1870-1835A>T ENSP00000499150.1:n.1870-1835A>T
ENST00000306058.9:c.3868A>T ENSP00000305119.5:p.Ser1290Cys
ENST00000375687.8:c.3883A>T ENSP00000364839.4:p.Ser1295Cys
ENST00000613218.4:c.3883A>T ENSP00000480487.1:p.Ser1295Cys
ENST00000620121.4:c.3883A>T ENSP00000481978.1:p.Ser1295Cys
NM_015338.5:c.3883A>T , LRG_630t1:c.3883A>T NP_056153.2:p.Ser1295Cys
XM_006723727.2:c.3880A>T XP_006723790.1:p.Ser1294Cys
XM_006723728.2:c.3853A>T XP_006723791.1:p.Ser1285Cys
XM_006723730.2:c.3799A>T XP_006723793.1:p.Ser1267Cys
XM_006723732.2:c.3700A>T XP_006723795.1:p.Ser1234Cys
XM_006723733.1:c.3199A>T XP_006723796.1:p.Ser1067Cys
XM_011528647.1:c.4147A>T XP_011526949.1:p.Ser1383Cys
XM_011528648.1:c.4144A>T XP_011526950.1:p.Ser1382Cys
XM_011528649.1:c.4063A>T XP_011526951.1:p.Ser1355Cys
XM_011528650.1:c.3994A>T XP_011526952.1:p.Ser1332Cys
XM_011528651.1:c.3862A>T XP_011526953.1:p.Ser1288Cys
XM_011528652.1:c.3799A>T XP_011526954.1:p.Ser1267Cys
NM_001363734.1:c.3700A>T NP_001350663.1:p.Ser1234Cys
XM_006723727.3:c.3880A>T XP_006723790.1:p.Ser1294Cys
XM_006723728.3:c.3853A>T XP_006723791.1:p.Ser1285Cys
XM_006723730.4:c.3799A>T XP_006723793.1:p.Ser1267Cys
XM_011528648.3:c.4144A>T XP_011526950.1:p.Ser1382Cys
XM_011528652.2:c.3799A>T XP_011526954.1:p.Ser1267Cys
XM_017027704.1:c.3799A>T XP_016883193.1:p.Ser1267Cys
XM_017027705.1:c.3799A>T XP_016883194.1:p.Ser1267Cys
XM_017027706.1:c.3730A>T XP_016883195.1:p.Ser1244Cys
NM_015338.6:c.3883A>T MANE Select NP_056153.2:p.Ser1295Cys