Canonical Allele Identifier: CA408564039
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436616A>G , CM000682.2:g.32436616A>G GRCh38
NC_000020.10:g.31024419A>G , CM000682.1:g.31024419A>G GRCh37
NC_000020.9:g.30488080A>G NCBI36
NG_027868.1:g.83273A>G , LRG_630:g.83273A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3904A>G MANE Select ENSP00000364839.4:p.Lys1302Glu
ENST00000646985.1:c.3721A>G ENSP00000495053.1:p.Lys1241Glu
ENST00000647223.1:n.6257A>G
ENST00000651418.1:c.1870-1814A>G ENSP00000499150.1:n.1870-1814A>G
ENST00000306058.9:c.3889A>G ENSP00000305119.5:p.Lys1297Glu
ENST00000375687.8:c.3904A>G ENSP00000364839.4:p.Lys1302Glu
ENST00000613218.4:c.3904A>G ENSP00000480487.1:p.Lys1302Glu
ENST00000620121.4:c.3904A>G ENSP00000481978.1:p.Lys1302Glu
NM_015338.5:c.3904A>G , LRG_630t1:c.3904A>G NP_056153.2:p.Lys1302Glu
XM_006723727.2:c.3901A>G XP_006723790.1:p.Lys1301Glu
XM_006723728.2:c.3874A>G XP_006723791.1:p.Lys1292Glu
XM_006723730.2:c.3820A>G XP_006723793.1:p.Lys1274Glu
XM_006723732.2:c.3721A>G XP_006723795.1:p.Lys1241Glu
XM_006723733.1:c.3220A>G XP_006723796.1:p.Lys1074Glu
XM_011528647.1:c.4168A>G XP_011526949.1:p.Lys1390Glu
XM_011528648.1:c.4165A>G XP_011526950.1:p.Lys1389Glu
XM_011528649.1:c.4084A>G XP_011526951.1:p.Lys1362Glu
XM_011528650.1:c.4015A>G XP_011526952.1:p.Lys1339Glu
XM_011528651.1:c.3883A>G XP_011526953.1:p.Lys1295Glu
XM_011528652.1:c.3820A>G XP_011526954.1:p.Lys1274Glu
NM_001363734.1:c.3721A>G NP_001350663.1:p.Lys1241Glu
XM_006723727.3:c.3901A>G XP_006723790.1:p.Lys1301Glu
XM_006723728.3:c.3874A>G XP_006723791.1:p.Lys1292Glu
XM_006723730.4:c.3820A>G XP_006723793.1:p.Lys1274Glu
XM_011528648.3:c.4165A>G XP_011526950.1:p.Lys1389Glu
XM_011528652.2:c.3820A>G XP_011526954.1:p.Lys1274Glu
XM_017027704.1:c.3820A>G XP_016883193.1:p.Lys1274Glu
XM_017027705.1:c.3820A>G XP_016883194.1:p.Lys1274Glu
XM_017027706.1:c.3751A>G XP_016883195.1:p.Lys1251Glu
NM_015338.6:c.3904A>G MANE Select NP_056153.2:p.Lys1302Glu