Canonical Allele Identifier: CA408562791
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436022A>C , CM000682.2:g.32436022A>C GRCh38
NC_000020.10:g.31023825A>C , CM000682.1:g.31023825A>C GRCh37
NC_000020.9:g.30487486A>C NCBI36
NG_027868.1:g.82679A>C , LRG_630:g.82679A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3310A>C MANE Select ENSP00000364839.4:p.Thr1104Pro
ENST00000646985.1:c.3127A>C ENSP00000495053.1:p.Thr1043Pro
ENST00000647223.1:n.5663A>C
ENST00000651418.1:c.1869+1441A>C ENSP00000499150.1:n.1869+1441A>C
ENST00000306058.9:c.3295A>C ENSP00000305119.5:p.Thr1099Pro
ENST00000375687.8:c.3310A>C ENSP00000364839.4:p.Thr1104Pro
ENST00000613218.4:c.3310A>C ENSP00000480487.1:p.Thr1104Pro
ENST00000620121.4:c.3310A>C ENSP00000481978.1:p.Thr1104Pro
NM_015338.5:c.3310A>C , LRG_630t1:c.3310A>C NP_056153.2:p.Thr1104Pro
XM_006723727.2:c.3307A>C XP_006723790.1:p.Thr1103Pro
XM_006723728.2:c.3280A>C XP_006723791.1:p.Thr1094Pro
XM_006723730.2:c.3226A>C XP_006723793.1:p.Thr1076Pro
XM_006723732.2:c.3127A>C XP_006723795.1:p.Thr1043Pro
XM_006723733.1:c.2626A>C XP_006723796.1:p.Thr876Pro
XM_011528647.1:c.3574A>C XP_011526949.1:p.Thr1192Pro
XM_011528648.1:c.3571A>C XP_011526950.1:p.Thr1191Pro
XM_011528649.1:c.3490A>C XP_011526951.1:p.Thr1164Pro
XM_011528650.1:c.3421A>C XP_011526952.1:p.Thr1141Pro
XM_011528651.1:c.3289A>C XP_011526953.1:p.Thr1097Pro
XM_011528652.1:c.3226A>C XP_011526954.1:p.Thr1076Pro
NM_001363734.1:c.3127A>C NP_001350663.1:p.Thr1043Pro
XM_006723727.3:c.3307A>C XP_006723790.1:p.Thr1103Pro
XM_006723728.3:c.3280A>C XP_006723791.1:p.Thr1094Pro
XM_006723730.4:c.3226A>C XP_006723793.1:p.Thr1076Pro
XM_011528648.3:c.3571A>C XP_011526950.1:p.Thr1191Pro
XM_011528652.2:c.3226A>C XP_011526954.1:p.Thr1076Pro
XM_017027704.1:c.3226A>C XP_016883193.1:p.Thr1076Pro
XM_017027705.1:c.3226A>C XP_016883194.1:p.Thr1076Pro
XM_017027706.1:c.3157A>C XP_016883195.1:p.Thr1053Pro
NM_015338.6:c.3310A>C MANE Select NP_056153.2:p.Thr1104Pro