Canonical Allele Identifier: CA408563378
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2145384230

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436302C>G , CM000682.2:g.32436302C>G GRCh38
NC_000020.10:g.31024105C>G , CM000682.1:g.31024105C>G GRCh37
NC_000020.9:g.30487766C>G NCBI36
NG_027868.1:g.82959C>G , LRG_630:g.82959C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3590C>G MANE Select ENSP00000364839.4:p.Pro1197Arg
ENST00000646985.1:c.3407C>G ENSP00000495053.1:p.Pro1136Arg
ENST00000647223.1:n.5943C>G
ENST00000651418.1:c.1869+1721C>G ENSP00000499150.1:n.1869+1721C>G
ENST00000306058.9:c.3575C>G ENSP00000305119.5:p.Pro1192Arg
ENST00000375687.8:c.3590C>G ENSP00000364839.4:p.Pro1197Arg
ENST00000613218.4:c.3590C>G ENSP00000480487.1:p.Pro1197Arg
ENST00000620121.4:c.3590C>G ENSP00000481978.1:p.Pro1197Arg
NM_015338.5:c.3590C>G , LRG_630t1:c.3590C>G NP_056153.2:p.Pro1197Arg
XM_006723727.2:c.3587C>G XP_006723790.1:p.Pro1196Arg
XM_006723728.2:c.3560C>G XP_006723791.1:p.Pro1187Arg
XM_006723730.2:c.3506C>G XP_006723793.1:p.Pro1169Arg
XM_006723732.2:c.3407C>G XP_006723795.1:p.Pro1136Arg
XM_006723733.1:c.2906C>G XP_006723796.1:p.Pro969Arg
XM_011528647.1:c.3854C>G XP_011526949.1:p.Pro1285Arg
XM_011528648.1:c.3851C>G XP_011526950.1:p.Pro1284Arg
XM_011528649.1:c.3770C>G XP_011526951.1:p.Pro1257Arg
XM_011528650.1:c.3701C>G XP_011526952.1:p.Pro1234Arg
XM_011528651.1:c.3569C>G XP_011526953.1:p.Pro1190Arg
XM_011528652.1:c.3506C>G XP_011526954.1:p.Pro1169Arg
NM_001363734.1:c.3407C>G NP_001350663.1:p.Pro1136Arg
XM_006723727.3:c.3587C>G XP_006723790.1:p.Pro1196Arg
XM_006723728.3:c.3560C>G XP_006723791.1:p.Pro1187Arg
XM_006723730.4:c.3506C>G XP_006723793.1:p.Pro1169Arg
XM_011528648.3:c.3851C>G XP_011526950.1:p.Pro1284Arg
XM_011528652.2:c.3506C>G XP_011526954.1:p.Pro1169Arg
XM_017027704.1:c.3506C>G XP_016883193.1:p.Pro1169Arg
XM_017027705.1:c.3506C>G XP_016883194.1:p.Pro1169Arg
XM_017027706.1:c.3437C>G XP_016883195.1:p.Pro1146Arg
NM_015338.6:c.3590C>G MANE Select NP_056153.2:p.Pro1197Arg