Canonical Allele Identifier: CA408563973
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2145388809

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436586G>T , CM000682.2:g.32436586G>T GRCh38
NC_000020.10:g.31024389G>T , CM000682.1:g.31024389G>T GRCh37
NC_000020.9:g.30488050G>T NCBI36
NG_027868.1:g.83243G>T , LRG_630:g.83243G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3874G>T MANE Select ENSP00000364839.4:p.Gly1292Cys
ENST00000646985.1:c.3691G>T ENSP00000495053.1:p.Gly1231Cys
ENST00000647223.1:n.6227G>T
ENST00000651418.1:c.1870-1844G>T ENSP00000499150.1:n.1870-1844G>T
ENST00000306058.9:c.3859G>T ENSP00000305119.5:p.Gly1287Cys
ENST00000375687.8:c.3874G>T ENSP00000364839.4:p.Gly1292Cys
ENST00000613218.4:c.3874G>T ENSP00000480487.1:p.Gly1292Cys
ENST00000620121.4:c.3874G>T ENSP00000481978.1:p.Gly1292Cys
NM_015338.5:c.3874G>T , LRG_630t1:c.3874G>T NP_056153.2:p.Gly1292Cys
XM_006723727.2:c.3871G>T XP_006723790.1:p.Gly1291Cys
XM_006723728.2:c.3844G>T XP_006723791.1:p.Gly1282Cys
XM_006723730.2:c.3790G>T XP_006723793.1:p.Gly1264Cys
XM_006723732.2:c.3691G>T XP_006723795.1:p.Gly1231Cys
XM_006723733.1:c.3190G>T XP_006723796.1:p.Gly1064Cys
XM_011528647.1:c.4138G>T XP_011526949.1:p.Gly1380Cys
XM_011528648.1:c.4135G>T XP_011526950.1:p.Gly1379Cys
XM_011528649.1:c.4054G>T XP_011526951.1:p.Gly1352Cys
XM_011528650.1:c.3985G>T XP_011526952.1:p.Gly1329Cys
XM_011528651.1:c.3853G>T XP_011526953.1:p.Gly1285Cys
XM_011528652.1:c.3790G>T XP_011526954.1:p.Gly1264Cys
NM_001363734.1:c.3691G>T NP_001350663.1:p.Gly1231Cys
XM_006723727.3:c.3871G>T XP_006723790.1:p.Gly1291Cys
XM_006723728.3:c.3844G>T XP_006723791.1:p.Gly1282Cys
XM_006723730.4:c.3790G>T XP_006723793.1:p.Gly1264Cys
XM_011528648.3:c.4135G>T XP_011526950.1:p.Gly1379Cys
XM_011528652.2:c.3790G>T XP_011526954.1:p.Gly1264Cys
XM_017027704.1:c.3790G>T XP_016883193.1:p.Gly1264Cys
XM_017027705.1:c.3790G>T XP_016883194.1:p.Gly1264Cys
XM_017027706.1:c.3721G>T XP_016883195.1:p.Gly1241Cys
NM_015338.6:c.3874G>T MANE Select NP_056153.2:p.Gly1292Cys