Canonical Allele Identifier: CA408563419
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436322T>A , CM000682.2:g.32436322T>A GRCh38
NC_000020.10:g.31024125T>A , CM000682.1:g.31024125T>A GRCh37
NC_000020.9:g.30487786T>A NCBI36
NG_027868.1:g.82979T>A , LRG_630:g.82979T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3610T>A MANE Select ENSP00000364839.4:p.Cys1204Ser
ENST00000646985.1:c.3427T>A ENSP00000495053.1:p.Cys1143Ser
ENST00000647223.1:n.5963T>A
ENST00000651418.1:c.1869+1741T>A ENSP00000499150.1:n.1869+1741T>A
ENST00000306058.9:c.3595T>A ENSP00000305119.5:p.Cys1199Ser
ENST00000375687.8:c.3610T>A ENSP00000364839.4:p.Cys1204Ser
ENST00000613218.4:c.3610T>A ENSP00000480487.1:p.Cys1204Ser
ENST00000620121.4:c.3610T>A ENSP00000481978.1:p.Cys1204Ser
NM_015338.5:c.3610T>A , LRG_630t1:c.3610T>A NP_056153.2:p.Cys1204Ser
XM_006723727.2:c.3607T>A XP_006723790.1:p.Cys1203Ser
XM_006723728.2:c.3580T>A XP_006723791.1:p.Cys1194Ser
XM_006723730.2:c.3526T>A XP_006723793.1:p.Cys1176Ser
XM_006723732.2:c.3427T>A XP_006723795.1:p.Cys1143Ser
XM_006723733.1:c.2926T>A XP_006723796.1:p.Cys976Ser
XM_011528647.1:c.3874T>A XP_011526949.1:p.Cys1292Ser
XM_011528648.1:c.3871T>A XP_011526950.1:p.Cys1291Ser
XM_011528649.1:c.3790T>A XP_011526951.1:p.Cys1264Ser
XM_011528650.1:c.3721T>A XP_011526952.1:p.Cys1241Ser
XM_011528651.1:c.3589T>A XP_011526953.1:p.Cys1197Ser
XM_011528652.1:c.3526T>A XP_011526954.1:p.Cys1176Ser
NM_001363734.1:c.3427T>A NP_001350663.1:p.Cys1143Ser
XM_006723727.3:c.3607T>A XP_006723790.1:p.Cys1203Ser
XM_006723728.3:c.3580T>A XP_006723791.1:p.Cys1194Ser
XM_006723730.4:c.3526T>A XP_006723793.1:p.Cys1176Ser
XM_011528648.3:c.3871T>A XP_011526950.1:p.Cys1291Ser
XM_011528652.2:c.3526T>A XP_011526954.1:p.Cys1176Ser
XM_017027704.1:c.3526T>A XP_016883193.1:p.Cys1176Ser
XM_017027705.1:c.3526T>A XP_016883194.1:p.Cys1176Ser
XM_017027706.1:c.3457T>A XP_016883195.1:p.Cys1153Ser
NM_015338.6:c.3610T>A MANE Select NP_056153.2:p.Cys1204Ser