Canonical Allele Identifier: CA408562503
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435884G>C , CM000682.2:g.32435884G>C GRCh38
NC_000020.10:g.31023687G>C , CM000682.1:g.31023687G>C GRCh37
NC_000020.9:g.30487348G>C NCBI36
NG_027868.1:g.82541G>C , LRG_630:g.82541G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3172G>C MANE Select ENSP00000364839.4:p.Gly1058Arg
ENST00000646985.1:c.2989G>C ENSP00000495053.1:p.Gly997Arg
ENST00000647223.1:n.5525G>C
ENST00000651418.1:c.1869+1303G>C ENSP00000499150.1:n.1869+1303G>C
ENST00000306058.9:c.3157G>C ENSP00000305119.5:p.Gly1053Arg
ENST00000375687.8:c.3172G>C ENSP00000364839.4:p.Gly1058Arg
ENST00000613218.4:c.3172G>C ENSP00000480487.1:p.Gly1058Arg
ENST00000620121.4:c.3172G>C ENSP00000481978.1:p.Gly1058Arg
NM_015338.5:c.3172G>C , LRG_630t1:c.3172G>C NP_056153.2:p.Gly1058Arg
XM_006723727.2:c.3169G>C XP_006723790.1:p.Gly1057Arg
XM_006723728.2:c.3142G>C XP_006723791.1:p.Gly1048Arg
XM_006723730.2:c.3088G>C XP_006723793.1:p.Gly1030Arg
XM_006723732.2:c.2989G>C XP_006723795.1:p.Gly997Arg
XM_006723733.1:c.2488G>C XP_006723796.1:p.Gly830Arg
XM_011528647.1:c.3436G>C XP_011526949.1:p.Gly1146Arg
XM_011528648.1:c.3433G>C XP_011526950.1:p.Gly1145Arg
XM_011528649.1:c.3352G>C XP_011526951.1:p.Gly1118Arg
XM_011528650.1:c.3283G>C XP_011526952.1:p.Gly1095Arg
XM_011528651.1:c.3151G>C XP_011526953.1:p.Gly1051Arg
XM_011528652.1:c.3088G>C XP_011526954.1:p.Gly1030Arg
NM_001363734.1:c.2989G>C NP_001350663.1:p.Gly997Arg
XM_006723727.3:c.3169G>C XP_006723790.1:p.Gly1057Arg
XM_006723728.3:c.3142G>C XP_006723791.1:p.Gly1048Arg
XM_006723730.4:c.3088G>C XP_006723793.1:p.Gly1030Arg
XM_011528648.3:c.3433G>C XP_011526950.1:p.Gly1145Arg
XM_011528652.2:c.3088G>C XP_011526954.1:p.Gly1030Arg
XM_017027704.1:c.3088G>C XP_016883193.1:p.Gly1030Arg
XM_017027705.1:c.3088G>C XP_016883194.1:p.Gly1030Arg
XM_017027706.1:c.3019G>C XP_016883195.1:p.Gly1007Arg
NM_015338.6:c.3172G>C MANE Select NP_056153.2:p.Gly1058Arg