Canonical Allele Identifier: CA408564479
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436827C>T , CM000682.2:g.32436827C>T GRCh38
NC_000020.10:g.31024630C>T , CM000682.1:g.31024630C>T GRCh37
NC_000020.9:g.30488291C>T NCBI36
NG_027868.1:g.83484C>T , LRG_630:g.83484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4115C>T MANE Select ENSP00000364839.4:p.Thr1372Ile
ENST00000646985.1:c.3932C>T ENSP00000495053.1:p.Thr1311Ile
ENST00000647223.1:n.6468C>T
ENST00000651418.1:c.1870-1603C>T ENSP00000499150.1:n.1870-1603C>T
ENST00000306058.9:c.4100C>T ENSP00000305119.5:p.Thr1367Ile
ENST00000375687.8:c.4115C>T ENSP00000364839.4:p.Thr1372Ile
ENST00000613218.4:c.4115C>T ENSP00000480487.1:p.Thr1372Ile
ENST00000620121.4:c.4115C>T ENSP00000481978.1:p.Thr1372Ile
NM_015338.5:c.4115C>T , LRG_630t1:c.4115C>T NP_056153.2:p.Thr1372Ile
XM_006723727.2:c.4112C>T XP_006723790.1:p.Thr1371Ile
XM_006723728.2:c.4085C>T XP_006723791.1:p.Thr1362Ile
XM_006723730.2:c.4031C>T XP_006723793.1:p.Thr1344Ile
XM_006723732.2:c.3932C>T XP_006723795.1:p.Thr1311Ile
XM_006723733.1:c.3431C>T XP_006723796.1:p.Thr1144Ile
XM_011528647.1:c.4379C>T XP_011526949.1:p.Thr1460Ile
XM_011528648.1:c.4376C>T XP_011526950.1:p.Thr1459Ile
XM_011528649.1:c.4295C>T XP_011526951.1:p.Thr1432Ile
XM_011528650.1:c.4226C>T XP_011526952.1:p.Thr1409Ile
XM_011528651.1:c.4094C>T XP_011526953.1:p.Thr1365Ile
XM_011528652.1:c.4031C>T XP_011526954.1:p.Thr1344Ile
NM_001363734.1:c.3932C>T NP_001350663.1:p.Thr1311Ile
XM_006723727.3:c.4112C>T XP_006723790.1:p.Thr1371Ile
XM_006723728.3:c.4085C>T XP_006723791.1:p.Thr1362Ile
XM_006723730.4:c.4031C>T XP_006723793.1:p.Thr1344Ile
XM_011528648.3:c.4376C>T XP_011526950.1:p.Thr1459Ile
XM_011528652.2:c.4031C>T XP_011526954.1:p.Thr1344Ile
XM_017027704.1:c.4031C>T XP_016883193.1:p.Thr1344Ile
XM_017027705.1:c.4031C>T XP_016883194.1:p.Thr1344Ile
XM_017027706.1:c.3962C>T XP_016883195.1:p.Thr1321Ile
NM_015338.6:c.4115C>T MANE Select NP_056153.2:p.Thr1372Ile