Canonical Allele Identifier: CA408563592
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436403T>G , CM000682.2:g.32436403T>G GRCh38
NC_000020.10:g.31024206T>G , CM000682.1:g.31024206T>G GRCh37
NC_000020.9:g.30487867T>G NCBI36
NG_027868.1:g.83060T>G , LRG_630:g.83060T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3691T>G MANE Select ENSP00000364839.4:p.Ser1231Ala
ENST00000646985.1:c.3508T>G ENSP00000495053.1:p.Ser1170Ala
ENST00000647223.1:n.6044T>G
ENST00000651418.1:c.1869+1822T>G ENSP00000499150.1:n.1869+1822T>G
ENST00000306058.9:c.3676T>G ENSP00000305119.5:p.Ser1226Ala
ENST00000375687.8:c.3691T>G ENSP00000364839.4:p.Ser1231Ala
ENST00000613218.4:c.3691T>G ENSP00000480487.1:p.Ser1231Ala
ENST00000620121.4:c.3691T>G ENSP00000481978.1:p.Ser1231Ala
NM_015338.5:c.3691T>G , LRG_630t1:c.3691T>G NP_056153.2:p.Ser1231Ala
XM_006723727.2:c.3688T>G XP_006723790.1:p.Ser1230Ala
XM_006723728.2:c.3661T>G XP_006723791.1:p.Ser1221Ala
XM_006723730.2:c.3607T>G XP_006723793.1:p.Ser1203Ala
XM_006723732.2:c.3508T>G XP_006723795.1:p.Ser1170Ala
XM_006723733.1:c.3007T>G XP_006723796.1:p.Ser1003Ala
XM_011528647.1:c.3955T>G XP_011526949.1:p.Ser1319Ala
XM_011528648.1:c.3952T>G XP_011526950.1:p.Ser1318Ala
XM_011528649.1:c.3871T>G XP_011526951.1:p.Ser1291Ala
XM_011528650.1:c.3802T>G XP_011526952.1:p.Ser1268Ala
XM_011528651.1:c.3670T>G XP_011526953.1:p.Ser1224Ala
XM_011528652.1:c.3607T>G XP_011526954.1:p.Ser1203Ala
NM_001363734.1:c.3508T>G NP_001350663.1:p.Ser1170Ala
XM_006723727.3:c.3688T>G XP_006723790.1:p.Ser1230Ala
XM_006723728.3:c.3661T>G XP_006723791.1:p.Ser1221Ala
XM_006723730.4:c.3607T>G XP_006723793.1:p.Ser1203Ala
XM_011528648.3:c.3952T>G XP_011526950.1:p.Ser1318Ala
XM_011528652.2:c.3607T>G XP_011526954.1:p.Ser1203Ala
XM_017027704.1:c.3607T>G XP_016883193.1:p.Ser1203Ala
XM_017027705.1:c.3607T>G XP_016883194.1:p.Ser1203Ala
XM_017027706.1:c.3538T>G XP_016883195.1:p.Ser1180Ala
NM_015338.6:c.3691T>G MANE Select NP_056153.2:p.Ser1231Ala