Canonical Allele Identifier: CA408563593
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436404C>G , CM000682.2:g.32436404C>G GRCh38
NC_000020.10:g.31024207C>G , CM000682.1:g.31024207C>G GRCh37
NC_000020.9:g.30487868C>G NCBI36
NG_027868.1:g.83061C>G , LRG_630:g.83061C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3692C>G MANE Select ENSP00000364839.4:p.Ser1231Cys
ENST00000646985.1:c.3509C>G ENSP00000495053.1:p.Ser1170Cys
ENST00000647223.1:n.6045C>G
ENST00000651418.1:c.1869+1823C>G ENSP00000499150.1:n.1869+1823C>G
ENST00000306058.9:c.3677C>G ENSP00000305119.5:p.Ser1226Cys
ENST00000375687.8:c.3692C>G ENSP00000364839.4:p.Ser1231Cys
ENST00000613218.4:c.3692C>G ENSP00000480487.1:p.Ser1231Cys
ENST00000620121.4:c.3692C>G ENSP00000481978.1:p.Ser1231Cys
NM_015338.5:c.3692C>G , LRG_630t1:c.3692C>G NP_056153.2:p.Ser1231Cys
XM_006723727.2:c.3689C>G XP_006723790.1:p.Ser1230Cys
XM_006723728.2:c.3662C>G XP_006723791.1:p.Ser1221Cys
XM_006723730.2:c.3608C>G XP_006723793.1:p.Ser1203Cys
XM_006723732.2:c.3509C>G XP_006723795.1:p.Ser1170Cys
XM_006723733.1:c.3008C>G XP_006723796.1:p.Ser1003Cys
XM_011528647.1:c.3956C>G XP_011526949.1:p.Ser1319Cys
XM_011528648.1:c.3953C>G XP_011526950.1:p.Ser1318Cys
XM_011528649.1:c.3872C>G XP_011526951.1:p.Ser1291Cys
XM_011528650.1:c.3803C>G XP_011526952.1:p.Ser1268Cys
XM_011528651.1:c.3671C>G XP_011526953.1:p.Ser1224Cys
XM_011528652.1:c.3608C>G XP_011526954.1:p.Ser1203Cys
NM_001363734.1:c.3509C>G NP_001350663.1:p.Ser1170Cys
XM_006723727.3:c.3689C>G XP_006723790.1:p.Ser1230Cys
XM_006723728.3:c.3662C>G XP_006723791.1:p.Ser1221Cys
XM_006723730.4:c.3608C>G XP_006723793.1:p.Ser1203Cys
XM_011528648.3:c.3953C>G XP_011526950.1:p.Ser1318Cys
XM_011528652.2:c.3608C>G XP_011526954.1:p.Ser1203Cys
XM_017027704.1:c.3608C>G XP_016883193.1:p.Ser1203Cys
XM_017027705.1:c.3608C>G XP_016883194.1:p.Ser1203Cys
XM_017027706.1:c.3539C>G XP_016883195.1:p.Ser1180Cys
NM_015338.6:c.3692C>G MANE Select NP_056153.2:p.Ser1231Cys