Canonical Allele Identifier: CA408564435
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs1218050808

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436809G>C , CM000682.2:g.32436809G>C GRCh38
NC_000020.10:g.31024612G>C , CM000682.1:g.31024612G>C GRCh37
NC_000020.9:g.30488273G>C NCBI36
NG_027868.1:g.83466G>C , LRG_630:g.83466G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4097G>C MANE Select ENSP00000364839.4:p.Ser1366Thr
ENST00000646985.1:c.3914G>C ENSP00000495053.1:p.Ser1305Thr
ENST00000647223.1:n.6450G>C
ENST00000651418.1:c.1870-1621G>C ENSP00000499150.1:n.1870-1621G>C
ENST00000306058.9:c.4082G>C ENSP00000305119.5:p.Ser1361Thr
ENST00000375687.8:c.4097G>C ENSP00000364839.4:p.Ser1366Thr
ENST00000613218.4:c.4097G>C ENSP00000480487.1:p.Ser1366Thr
ENST00000620121.4:c.4097G>C ENSP00000481978.1:p.Ser1366Thr
NM_015338.5:c.4097G>C , LRG_630t1:c.4097G>C NP_056153.2:p.Ser1366Thr
XM_006723727.2:c.4094G>C XP_006723790.1:p.Ser1365Thr
XM_006723728.2:c.4067G>C XP_006723791.1:p.Ser1356Thr
XM_006723730.2:c.4013G>C XP_006723793.1:p.Ser1338Thr
XM_006723732.2:c.3914G>C XP_006723795.1:p.Ser1305Thr
XM_006723733.1:c.3413G>C XP_006723796.1:p.Ser1138Thr
XM_011528647.1:c.4361G>C XP_011526949.1:p.Ser1454Thr
XM_011528648.1:c.4358G>C XP_011526950.1:p.Ser1453Thr
XM_011528649.1:c.4277G>C XP_011526951.1:p.Ser1426Thr
XM_011528650.1:c.4208G>C XP_011526952.1:p.Ser1403Thr
XM_011528651.1:c.4076G>C XP_011526953.1:p.Ser1359Thr
XM_011528652.1:c.4013G>C XP_011526954.1:p.Ser1338Thr
NM_001363734.1:c.3914G>C NP_001350663.1:p.Ser1305Thr
XM_006723727.3:c.4094G>C XP_006723790.1:p.Ser1365Thr
XM_006723728.3:c.4067G>C XP_006723791.1:p.Ser1356Thr
XM_006723730.4:c.4013G>C XP_006723793.1:p.Ser1338Thr
XM_011528648.3:c.4358G>C XP_011526950.1:p.Ser1453Thr
XM_011528652.2:c.4013G>C XP_011526954.1:p.Ser1338Thr
XM_017027704.1:c.4013G>C XP_016883193.1:p.Ser1338Thr
XM_017027705.1:c.4013G>C XP_016883194.1:p.Ser1338Thr
XM_017027706.1:c.3944G>C XP_016883195.1:p.Ser1315Thr
NM_015338.6:c.4097G>C MANE Select NP_056153.2:p.Ser1366Thr