Canonical Allele Identifier: CA408563947
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436571A>G , CM000682.2:g.32436571A>G GRCh38
NC_000020.10:g.31024374A>G , CM000682.1:g.31024374A>G GRCh37
NC_000020.9:g.30488035A>G NCBI36
NG_027868.1:g.83228A>G , LRG_630:g.83228A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3859A>G MANE Select ENSP00000364839.4:p.Thr1287Ala
ENST00000646985.1:c.3676A>G ENSP00000495053.1:p.Thr1226Ala
ENST00000647223.1:n.6212A>G
ENST00000651418.1:c.1870-1859A>G ENSP00000499150.1:n.1870-1859A>G
ENST00000306058.9:c.3844A>G ENSP00000305119.5:p.Thr1282Ala
ENST00000375687.8:c.3859A>G ENSP00000364839.4:p.Thr1287Ala
ENST00000613218.4:c.3859A>G ENSP00000480487.1:p.Thr1287Ala
ENST00000620121.4:c.3859A>G ENSP00000481978.1:p.Thr1287Ala
NM_015338.5:c.3859A>G , LRG_630t1:c.3859A>G NP_056153.2:p.Thr1287Ala
XM_006723727.2:c.3856A>G XP_006723790.1:p.Thr1286Ala
XM_006723728.2:c.3829A>G XP_006723791.1:p.Thr1277Ala
XM_006723730.2:c.3775A>G XP_006723793.1:p.Thr1259Ala
XM_006723732.2:c.3676A>G XP_006723795.1:p.Thr1226Ala
XM_006723733.1:c.3175A>G XP_006723796.1:p.Thr1059Ala
XM_011528647.1:c.4123A>G XP_011526949.1:p.Thr1375Ala
XM_011528648.1:c.4120A>G XP_011526950.1:p.Thr1374Ala
XM_011528649.1:c.4039A>G XP_011526951.1:p.Thr1347Ala
XM_011528650.1:c.3970A>G XP_011526952.1:p.Thr1324Ala
XM_011528651.1:c.3838A>G XP_011526953.1:p.Thr1280Ala
XM_011528652.1:c.3775A>G XP_011526954.1:p.Thr1259Ala
NM_001363734.1:c.3676A>G NP_001350663.1:p.Thr1226Ala
XM_006723727.3:c.3856A>G XP_006723790.1:p.Thr1286Ala
XM_006723728.3:c.3829A>G XP_006723791.1:p.Thr1277Ala
XM_006723730.4:c.3775A>G XP_006723793.1:p.Thr1259Ala
XM_011528648.3:c.4120A>G XP_011526950.1:p.Thr1374Ala
XM_011528652.2:c.3775A>G XP_011526954.1:p.Thr1259Ala
XM_017027704.1:c.3775A>G XP_016883193.1:p.Thr1259Ala
XM_017027705.1:c.3775A>G XP_016883194.1:p.Thr1259Ala
XM_017027706.1:c.3706A>G XP_016883195.1:p.Thr1236Ala
NM_015338.6:c.3859A>G MANE Select NP_056153.2:p.Thr1287Ala