Canonical Allele Identifier: CA408562789
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2145379742

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436020C>G , CM000682.2:g.32436020C>G GRCh38
NC_000020.10:g.31023823C>G , CM000682.1:g.31023823C>G GRCh37
NC_000020.9:g.30487484C>G NCBI36
NG_027868.1:g.82677C>G , LRG_630:g.82677C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3308C>G MANE Select ENSP00000364839.4:p.Ala1103Gly
ENST00000646985.1:c.3125C>G ENSP00000495053.1:p.Ala1042Gly
ENST00000647223.1:n.5661C>G
ENST00000651418.1:c.1869+1439C>G ENSP00000499150.1:n.1869+1439C>G
ENST00000306058.9:c.3293C>G ENSP00000305119.5:p.Ala1098Gly
ENST00000375687.8:c.3308C>G ENSP00000364839.4:p.Ala1103Gly
ENST00000613218.4:c.3308C>G ENSP00000480487.1:p.Ala1103Gly
ENST00000620121.4:c.3308C>G ENSP00000481978.1:p.Ala1103Gly
NM_015338.5:c.3308C>G , LRG_630t1:c.3308C>G NP_056153.2:p.Ala1103Gly
XM_006723727.2:c.3305C>G XP_006723790.1:p.Ala1102Gly
XM_006723728.2:c.3278C>G XP_006723791.1:p.Ala1093Gly
XM_006723730.2:c.3224C>G XP_006723793.1:p.Ala1075Gly
XM_006723732.2:c.3125C>G XP_006723795.1:p.Ala1042Gly
XM_006723733.1:c.2624C>G XP_006723796.1:p.Ala875Gly
XM_011528647.1:c.3572C>G XP_011526949.1:p.Ala1191Gly
XM_011528648.1:c.3569C>G XP_011526950.1:p.Ala1190Gly
XM_011528649.1:c.3488C>G XP_011526951.1:p.Ala1163Gly
XM_011528650.1:c.3419C>G XP_011526952.1:p.Ala1140Gly
XM_011528651.1:c.3287C>G XP_011526953.1:p.Ala1096Gly
XM_011528652.1:c.3224C>G XP_011526954.1:p.Ala1075Gly
NM_001363734.1:c.3125C>G NP_001350663.1:p.Ala1042Gly
XM_006723727.3:c.3305C>G XP_006723790.1:p.Ala1102Gly
XM_006723728.3:c.3278C>G XP_006723791.1:p.Ala1093Gly
XM_006723730.4:c.3224C>G XP_006723793.1:p.Ala1075Gly
XM_011528648.3:c.3569C>G XP_011526950.1:p.Ala1190Gly
XM_011528652.2:c.3224C>G XP_011526954.1:p.Ala1075Gly
XM_017027704.1:c.3224C>G XP_016883193.1:p.Ala1075Gly
XM_017027705.1:c.3224C>G XP_016883194.1:p.Ala1075Gly
XM_017027706.1:c.3155C>G XP_016883195.1:p.Ala1052Gly
NM_015338.6:c.3308C>G MANE Select NP_056153.2:p.Ala1103Gly