Canonical Allele Identifier: CA408562558
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435908G>C , CM000682.2:g.32435908G>C GRCh38
NC_000020.10:g.31023711G>C , CM000682.1:g.31023711G>C GRCh37
NC_000020.9:g.30487372G>C NCBI36
NG_027868.1:g.82565G>C , LRG_630:g.82565G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3196G>C MANE Select ENSP00000364839.4:p.Val1066Leu
ENST00000646985.1:c.3013G>C ENSP00000495053.1:p.Val1005Leu
ENST00000647223.1:n.5549G>C
ENST00000651418.1:c.1869+1327G>C ENSP00000499150.1:n.1869+1327G>C
ENST00000306058.9:c.3181G>C ENSP00000305119.5:p.Val1061Leu
ENST00000375687.8:c.3196G>C ENSP00000364839.4:p.Val1066Leu
ENST00000613218.4:c.3196G>C ENSP00000480487.1:p.Val1066Leu
ENST00000620121.4:c.3196G>C ENSP00000481978.1:p.Val1066Leu
NM_015338.5:c.3196G>C , LRG_630t1:c.3196G>C NP_056153.2:p.Val1066Leu
XM_006723727.2:c.3193G>C XP_006723790.1:p.Val1065Leu
XM_006723728.2:c.3166G>C XP_006723791.1:p.Val1056Leu
XM_006723730.2:c.3112G>C XP_006723793.1:p.Val1038Leu
XM_006723732.2:c.3013G>C XP_006723795.1:p.Val1005Leu
XM_006723733.1:c.2512G>C XP_006723796.1:p.Val838Leu
XM_011528647.1:c.3460G>C XP_011526949.1:p.Val1154Leu
XM_011528648.1:c.3457G>C XP_011526950.1:p.Val1153Leu
XM_011528649.1:c.3376G>C XP_011526951.1:p.Val1126Leu
XM_011528650.1:c.3307G>C XP_011526952.1:p.Val1103Leu
XM_011528651.1:c.3175G>C XP_011526953.1:p.Val1059Leu
XM_011528652.1:c.3112G>C XP_011526954.1:p.Val1038Leu
NM_001363734.1:c.3013G>C NP_001350663.1:p.Val1005Leu
XM_006723727.3:c.3193G>C XP_006723790.1:p.Val1065Leu
XM_006723728.3:c.3166G>C XP_006723791.1:p.Val1056Leu
XM_006723730.4:c.3112G>C XP_006723793.1:p.Val1038Leu
XM_011528648.3:c.3457G>C XP_011526950.1:p.Val1153Leu
XM_011528652.2:c.3112G>C XP_011526954.1:p.Val1038Leu
XM_017027704.1:c.3112G>C XP_016883193.1:p.Val1038Leu
XM_017027705.1:c.3112G>C XP_016883194.1:p.Val1038Leu
XM_017027706.1:c.3043G>C XP_016883195.1:p.Val1015Leu
NM_015338.6:c.3196G>C MANE Select NP_056153.2:p.Val1066Leu