Canonical Allele Identifier: CA9808777
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs768022784

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435923G>A , CM000682.2:g.32435923G>A GRCh38
NC_000020.10:g.31023726G>A , CM000682.1:g.31023726G>A GRCh37
NC_000020.9:g.30487387G>A NCBI36
NG_027868.1:g.82580G>A , LRG_630:g.82580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3211G>A MANE Select ENSP00000364839.4:p.Ala1071Thr
ENST00000646985.1:c.3028G>A ENSP00000495053.1:p.Ala1010Thr
ENST00000647223.1:n.5564G>A
ENST00000651418.1:c.1869+1342G>A ENSP00000499150.1:n.1869+1342G>A
ENST00000306058.9:c.3196G>A ENSP00000305119.5:p.Ala1066Thr
ENST00000375687.8:c.3211G>A ENSP00000364839.4:p.Ala1071Thr
ENST00000613218.4:c.3211G>A ENSP00000480487.1:p.Ala1071Thr
ENST00000620121.4:c.3211G>A ENSP00000481978.1:p.Ala1071Thr
NM_015338.5:c.3211G>A , LRG_630t1:c.3211G>A NP_056153.2:p.Ala1071Thr
XM_006723727.2:c.3208G>A XP_006723790.1:p.Ala1070Thr
XM_006723728.2:c.3181G>A XP_006723791.1:p.Ala1061Thr
XM_006723730.2:c.3127G>A XP_006723793.1:p.Ala1043Thr
XM_006723732.2:c.3028G>A XP_006723795.1:p.Ala1010Thr
XM_006723733.1:c.2527G>A XP_006723796.1:p.Ala843Thr
XM_011528647.1:c.3475G>A XP_011526949.1:p.Ala1159Thr
XM_011528648.1:c.3472G>A XP_011526950.1:p.Ala1158Thr
XM_011528649.1:c.3391G>A XP_011526951.1:p.Ala1131Thr
XM_011528650.1:c.3322G>A XP_011526952.1:p.Ala1108Thr
XM_011528651.1:c.3190G>A XP_011526953.1:p.Ala1064Thr
XM_011528652.1:c.3127G>A XP_011526954.1:p.Ala1043Thr
NM_001363734.1:c.3028G>A NP_001350663.1:p.Ala1010Thr
XM_006723727.3:c.3208G>A XP_006723790.1:p.Ala1070Thr
XM_006723728.3:c.3181G>A XP_006723791.1:p.Ala1061Thr
XM_006723730.4:c.3127G>A XP_006723793.1:p.Ala1043Thr
XM_011528648.3:c.3472G>A XP_011526950.1:p.Ala1158Thr
XM_011528652.2:c.3127G>A XP_011526954.1:p.Ala1043Thr
XM_017027704.1:c.3127G>A XP_016883193.1:p.Ala1043Thr
XM_017027705.1:c.3127G>A XP_016883194.1:p.Ala1043Thr
XM_017027706.1:c.3058G>A XP_016883195.1:p.Ala1020Thr
NM_015338.6:c.3211G>A MANE Select NP_056153.2:p.Ala1071Thr