Canonical Allele Identifier: CA408563487
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436352C>T , CM000682.2:g.32436352C>T GRCh38
NC_000020.10:g.31024155C>T , CM000682.1:g.31024155C>T GRCh37
NC_000020.9:g.30487816C>T NCBI36
NG_027868.1:g.83009C>T , LRG_630:g.83009C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375687.10:c.3640C>T MANE Select ENSP00000364839.4:p.His1214Tyr
ENST00000646985.1:c.3457C>T ENSP00000495053.1:p.His1153Tyr
ENST00000647223.1:n.5993C>T
ENST00000651418.1:c.1869+1771C>T ENSP00000499150.1:n.1869+1771C>T
ENST00000306058.9:c.3625C>T ENSP00000305119.5:p.His1209Tyr
ENST00000375687.8:c.3640C>T ENSP00000364839.4:p.His1214Tyr
ENST00000613218.4:c.3640C>T ENSP00000480487.1:p.His1214Tyr
ENST00000620121.4:c.3640C>T ENSP00000481978.1:p.His1214Tyr
NM_015338.5:c.3640C>T , LRG_630t1:c.3640C>T NP_056153.2:p.His1214Tyr
XM_006723727.2:c.3637C>T XP_006723790.1:p.His1213Tyr
XM_006723728.2:c.3610C>T XP_006723791.1:p.His1204Tyr
XM_006723730.2:c.3556C>T XP_006723793.1:p.His1186Tyr
XM_006723732.2:c.3457C>T XP_006723795.1:p.His1153Tyr
XM_006723733.1:c.2956C>T XP_006723796.1:p.His986Tyr
XM_011528647.1:c.3904C>T XP_011526949.1:p.His1302Tyr
XM_011528648.1:c.3901C>T XP_011526950.1:p.His1301Tyr
XM_011528649.1:c.3820C>T XP_011526951.1:p.His1274Tyr
XM_011528650.1:c.3751C>T XP_011526952.1:p.His1251Tyr
XM_011528651.1:c.3619C>T XP_011526953.1:p.His1207Tyr
XM_011528652.1:c.3556C>T XP_011526954.1:p.His1186Tyr
NM_001363734.1:c.3457C>T NP_001350663.1:p.His1153Tyr
XM_006723727.3:c.3637C>T XP_006723790.1:p.His1213Tyr
XM_006723728.3:c.3610C>T XP_006723791.1:p.His1204Tyr
XM_006723730.4:c.3556C>T XP_006723793.1:p.His1186Tyr
XM_011528648.3:c.3901C>T XP_011526950.1:p.His1301Tyr
XM_011528652.2:c.3556C>T XP_011526954.1:p.His1186Tyr
XM_017027704.1:c.3556C>T XP_016883193.1:p.His1186Tyr
XM_017027705.1:c.3556C>T XP_016883194.1:p.His1186Tyr
XM_017027706.1:c.3487C>T XP_016883195.1:p.His1163Tyr
NM_015338.6:c.3640C>T MANE Select NP_056153.2:p.His1214Tyr