Canonical Allele Identifier: CA408562866
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436057C>G , CM000682.2:g.32436057C>G GRCh38
NC_000020.10:g.31023860C>G , CM000682.1:g.31023860C>G GRCh37
NC_000020.9:g.30487521C>G NCBI36
NG_027868.1:g.82714C>G , LRG_630:g.82714C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3345C>G MANE Select ENSP00000364839.4:p.Ser1115Arg
ENST00000646985.1:c.3162C>G ENSP00000495053.1:p.Ser1054Arg
ENST00000647223.1:n.5698C>G
ENST00000651418.1:c.1869+1476C>G ENSP00000499150.1:n.1869+1476C>G
ENST00000306058.9:c.3330C>G ENSP00000305119.5:p.Ser1110Arg
ENST00000375687.8:c.3345C>G ENSP00000364839.4:p.Ser1115Arg
ENST00000613218.4:c.3345C>G ENSP00000480487.1:p.Ser1115Arg
ENST00000620121.4:c.3345C>G ENSP00000481978.1:p.Ser1115Arg
NM_015338.5:c.3345C>G , LRG_630t1:c.3345C>G NP_056153.2:p.Ser1115Arg
XM_006723727.2:c.3342C>G XP_006723790.1:p.Ser1114Arg
XM_006723728.2:c.3315C>G XP_006723791.1:p.Ser1105Arg
XM_006723730.2:c.3261C>G XP_006723793.1:p.Ser1087Arg
XM_006723732.2:c.3162C>G XP_006723795.1:p.Ser1054Arg
XM_006723733.1:c.2661C>G XP_006723796.1:p.Ser887Arg
XM_011528647.1:c.3609C>G XP_011526949.1:p.Ser1203Arg
XM_011528648.1:c.3606C>G XP_011526950.1:p.Ser1202Arg
XM_011528649.1:c.3525C>G XP_011526951.1:p.Ser1175Arg
XM_011528650.1:c.3456C>G XP_011526952.1:p.Ser1152Arg
XM_011528651.1:c.3324C>G XP_011526953.1:p.Ser1108Arg
XM_011528652.1:c.3261C>G XP_011526954.1:p.Ser1087Arg
NM_001363734.1:c.3162C>G NP_001350663.1:p.Ser1054Arg
XM_006723727.3:c.3342C>G XP_006723790.1:p.Ser1114Arg
XM_006723728.3:c.3315C>G XP_006723791.1:p.Ser1105Arg
XM_006723730.4:c.3261C>G XP_006723793.1:p.Ser1087Arg
XM_011528648.3:c.3606C>G XP_011526950.1:p.Ser1202Arg
XM_011528652.2:c.3261C>G XP_011526954.1:p.Ser1087Arg
XM_017027704.1:c.3261C>G XP_016883193.1:p.Ser1087Arg
XM_017027705.1:c.3261C>G XP_016883194.1:p.Ser1087Arg
XM_017027706.1:c.3192C>G XP_016883195.1:p.Ser1064Arg
NM_015338.6:c.3345C>G MANE Select NP_056153.2:p.Ser1115Arg