Canonical Allele Identifier: CA408551594
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428215A>T , CM000682.2:g.32428215A>T GRCh38
NC_000020.10:g.31016018A>T , CM000682.1:g.31016018A>T GRCh37
NC_000020.9:g.30479679A>T NCBI36
NG_027868.1:g.74872A>T , LRG_630:g.74872A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.340A>T MANE Select ENSP00000364839.4:p.Asn114Tyr
ENST00000470145.3:n.283A>T
ENST00000643168.1:c.256A>T ENSP00000495003.1:p.Asn86Tyr
ENST00000644060.1:n.1144A>T
ENST00000644587.1:c.*179A>T ENSP00000494813.1:n.*179A>T
ENST00000644615.1:n.44A>T
ENST00000645514.1:n.88A>T
ENST00000646985.1:c.310A>T ENSP00000495053.1:p.Asn104Tyr
ENST00000651418.1:c.340A>T ENSP00000499150.1:p.Asn114Tyr
ENST00000306058.9:c.325A>T ENSP00000305119.5:p.Asn109Tyr
ENST00000375687.8:c.340A>T ENSP00000364839.4:p.Asn114Tyr
ENST00000470145.2:n.283A>T
ENST00000613218.4:c.340A>T ENSP00000480487.1:p.Asn114Tyr
ENST00000620121.4:c.340A>T ENSP00000481978.1:p.Asn114Tyr
NM_015338.5:c.340A>T , LRG_630t1:c.340A>T NP_056153.2:p.Asn114Tyr
XM_006723727.2:c.337A>T XP_006723790.1:p.Asn113Tyr
XM_006723728.2:c.310A>T XP_006723791.1:p.Asn104Tyr
XM_006723730.2:c.256A>T XP_006723793.1:p.Asn86Tyr
XM_006723732.2:c.310A>T XP_006723795.1:p.Asn104Tyr
XM_011528647.1:c.604A>T XP_011526949.1:p.Asn202Tyr
XM_011528648.1:c.601A>T XP_011526950.1:p.Asn201Tyr
XM_011528649.1:c.520A>T XP_011526951.1:p.Asn174Tyr
XM_011528650.1:c.604A>T XP_011526952.1:p.Asn202Tyr
XM_011528651.1:c.319A>T XP_011526953.1:p.Asn107Tyr
XM_011528652.1:c.256A>T XP_011526954.1:p.Asn86Tyr
NM_001363734.1:c.310A>T NP_001350663.1:p.Asn104Tyr
XM_006723727.3:c.337A>T XP_006723790.1:p.Asn113Tyr
XM_006723728.3:c.310A>T XP_006723791.1:p.Asn104Tyr
XM_006723730.4:c.256A>T XP_006723793.1:p.Asn86Tyr
XM_011528648.3:c.601A>T XP_011526950.1:p.Asn201Tyr
XM_011528652.2:c.256A>T XP_011526954.1:p.Asn86Tyr
XM_017027704.1:c.256A>T XP_016883193.1:p.Asn86Tyr
XM_017027705.1:c.256A>T XP_016883194.1:p.Asn86Tyr
XM_017027706.1:c.340A>T XP_016883195.1:p.Asn114Tyr
NM_015338.6:c.340A>T MANE Select NP_056153.2:p.Asn114Tyr