Canonical Allele Identifier: CA408563682
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436442A>C , CM000682.2:g.32436442A>C GRCh38
NC_000020.10:g.31024245A>C , CM000682.1:g.31024245A>C GRCh37
NC_000020.9:g.30487906A>C NCBI36
NG_027868.1:g.83099A>C , LRG_630:g.83099A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3730A>C MANE Select ENSP00000364839.4:p.Lys1244Gln
ENST00000646985.1:c.3547A>C ENSP00000495053.1:p.Lys1183Gln
ENST00000647223.1:n.6083A>C
ENST00000651418.1:c.1869+1861A>C ENSP00000499150.1:n.1869+1861A>C
ENST00000306058.9:c.3715A>C ENSP00000305119.5:p.Lys1239Gln
ENST00000375687.8:c.3730A>C ENSP00000364839.4:p.Lys1244Gln
ENST00000613218.4:c.3730A>C ENSP00000480487.1:p.Lys1244Gln
ENST00000620121.4:c.3730A>C ENSP00000481978.1:p.Lys1244Gln
NM_015338.5:c.3730A>C , LRG_630t1:c.3730A>C NP_056153.2:p.Lys1244Gln
XM_006723727.2:c.3727A>C XP_006723790.1:p.Lys1243Gln
XM_006723728.2:c.3700A>C XP_006723791.1:p.Lys1234Gln
XM_006723730.2:c.3646A>C XP_006723793.1:p.Lys1216Gln
XM_006723732.2:c.3547A>C XP_006723795.1:p.Lys1183Gln
XM_006723733.1:c.3046A>C XP_006723796.1:p.Lys1016Gln
XM_011528647.1:c.3994A>C XP_011526949.1:p.Lys1332Gln
XM_011528648.1:c.3991A>C XP_011526950.1:p.Lys1331Gln
XM_011528649.1:c.3910A>C XP_011526951.1:p.Lys1304Gln
XM_011528650.1:c.3841A>C XP_011526952.1:p.Lys1281Gln
XM_011528651.1:c.3709A>C XP_011526953.1:p.Lys1237Gln
XM_011528652.1:c.3646A>C XP_011526954.1:p.Lys1216Gln
NM_001363734.1:c.3547A>C NP_001350663.1:p.Lys1183Gln
XM_006723727.3:c.3727A>C XP_006723790.1:p.Lys1243Gln
XM_006723728.3:c.3700A>C XP_006723791.1:p.Lys1234Gln
XM_006723730.4:c.3646A>C XP_006723793.1:p.Lys1216Gln
XM_011528648.3:c.3991A>C XP_011526950.1:p.Lys1331Gln
XM_011528652.2:c.3646A>C XP_011526954.1:p.Lys1216Gln
XM_017027704.1:c.3646A>C XP_016883193.1:p.Lys1216Gln
XM_017027705.1:c.3646A>C XP_016883194.1:p.Lys1216Gln
XM_017027706.1:c.3577A>C XP_016883195.1:p.Lys1193Gln
NM_015338.6:c.3730A>C MANE Select NP_056153.2:p.Lys1244Gln