Canonical Allele Identifier: CA408563392
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436310C>G , CM000682.2:g.32436310C>G GRCh38
NC_000020.10:g.31024113C>G , CM000682.1:g.31024113C>G GRCh37
NC_000020.9:g.30487774C>G NCBI36
NG_027868.1:g.82967C>G , LRG_630:g.82967C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3598C>G MANE Select ENSP00000364839.4:p.Pro1200Ala
ENST00000646985.1:c.3415C>G ENSP00000495053.1:p.Pro1139Ala
ENST00000647223.1:n.5951C>G
ENST00000651418.1:c.1869+1729C>G ENSP00000499150.1:n.1869+1729C>G
ENST00000306058.9:c.3583C>G ENSP00000305119.5:p.Pro1195Ala
ENST00000375687.8:c.3598C>G ENSP00000364839.4:p.Pro1200Ala
ENST00000613218.4:c.3598C>G ENSP00000480487.1:p.Pro1200Ala
ENST00000620121.4:c.3598C>G ENSP00000481978.1:p.Pro1200Ala
NM_015338.5:c.3598C>G , LRG_630t1:c.3598C>G NP_056153.2:p.Pro1200Ala
XM_006723727.2:c.3595C>G XP_006723790.1:p.Pro1199Ala
XM_006723728.2:c.3568C>G XP_006723791.1:p.Pro1190Ala
XM_006723730.2:c.3514C>G XP_006723793.1:p.Pro1172Ala
XM_006723732.2:c.3415C>G XP_006723795.1:p.Pro1139Ala
XM_006723733.1:c.2914C>G XP_006723796.1:p.Pro972Ala
XM_011528647.1:c.3862C>G XP_011526949.1:p.Pro1288Ala
XM_011528648.1:c.3859C>G XP_011526950.1:p.Pro1287Ala
XM_011528649.1:c.3778C>G XP_011526951.1:p.Pro1260Ala
XM_011528650.1:c.3709C>G XP_011526952.1:p.Pro1237Ala
XM_011528651.1:c.3577C>G XP_011526953.1:p.Pro1193Ala
XM_011528652.1:c.3514C>G XP_011526954.1:p.Pro1172Ala
NM_001363734.1:c.3415C>G NP_001350663.1:p.Pro1139Ala
XM_006723727.3:c.3595C>G XP_006723790.1:p.Pro1199Ala
XM_006723728.3:c.3568C>G XP_006723791.1:p.Pro1190Ala
XM_006723730.4:c.3514C>G XP_006723793.1:p.Pro1172Ala
XM_011528648.3:c.3859C>G XP_011526950.1:p.Pro1287Ala
XM_011528652.2:c.3514C>G XP_011526954.1:p.Pro1172Ala
XM_017027704.1:c.3514C>G XP_016883193.1:p.Pro1172Ala
XM_017027705.1:c.3514C>G XP_016883194.1:p.Pro1172Ala
XM_017027706.1:c.3445C>G XP_016883195.1:p.Pro1149Ala
NM_015338.6:c.3598C>G MANE Select NP_056153.2:p.Pro1200Ala