Canonical Allele Identifier: CA408564486
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436831T>G , CM000682.2:g.32436831T>G GRCh38
NC_000020.10:g.31024634T>G , CM000682.1:g.31024634T>G GRCh37
NC_000020.9:g.30488295T>G NCBI36
NG_027868.1:g.83488T>G , LRG_630:g.83488T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4119T>G MANE Select ENSP00000364839.4:p.Phe1373Leu
ENST00000646985.1:c.3936T>G ENSP00000495053.1:p.Phe1312Leu
ENST00000647223.1:n.6472T>G
ENST00000651418.1:c.1870-1599T>G ENSP00000499150.1:n.1870-1599T>G
ENST00000306058.9:c.4104T>G ENSP00000305119.5:p.Phe1368Leu
ENST00000375687.8:c.4119T>G ENSP00000364839.4:p.Phe1373Leu
ENST00000613218.4:c.4119T>G ENSP00000480487.1:p.Phe1373Leu
ENST00000620121.4:c.4119T>G ENSP00000481978.1:p.Phe1373Leu
NM_015338.5:c.4119T>G , LRG_630t1:c.4119T>G NP_056153.2:p.Phe1373Leu
XM_006723727.2:c.4116T>G XP_006723790.1:p.Phe1372Leu
XM_006723728.2:c.4089T>G XP_006723791.1:p.Phe1363Leu
XM_006723730.2:c.4035T>G XP_006723793.1:p.Phe1345Leu
XM_006723732.2:c.3936T>G XP_006723795.1:p.Phe1312Leu
XM_006723733.1:c.3435T>G XP_006723796.1:p.Phe1145Leu
XM_011528647.1:c.4383T>G XP_011526949.1:p.Phe1461Leu
XM_011528648.1:c.4380T>G XP_011526950.1:p.Phe1460Leu
XM_011528649.1:c.4299T>G XP_011526951.1:p.Phe1433Leu
XM_011528650.1:c.4230T>G XP_011526952.1:p.Phe1410Leu
XM_011528651.1:c.4098T>G XP_011526953.1:p.Phe1366Leu
XM_011528652.1:c.4035T>G XP_011526954.1:p.Phe1345Leu
NM_001363734.1:c.3936T>G NP_001350663.1:p.Phe1312Leu
XM_006723727.3:c.4116T>G XP_006723790.1:p.Phe1372Leu
XM_006723728.3:c.4089T>G XP_006723791.1:p.Phe1363Leu
XM_006723730.4:c.4035T>G XP_006723793.1:p.Phe1345Leu
XM_011528648.3:c.4380T>G XP_011526950.1:p.Phe1460Leu
XM_011528652.2:c.4035T>G XP_011526954.1:p.Phe1345Leu
XM_017027704.1:c.4035T>G XP_016883193.1:p.Phe1345Leu
XM_017027705.1:c.4035T>G XP_016883194.1:p.Phe1345Leu
XM_017027706.1:c.3966T>G XP_016883195.1:p.Phe1322Leu
NM_015338.6:c.4119T>G MANE Select NP_056153.2:p.Phe1373Leu