Canonical Allele Identifier: CA408551709
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs376332327

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428244C>G , CM000682.2:g.32428244C>G GRCh38
NC_000020.10:g.31016047C>G , CM000682.1:g.31016047C>G GRCh37
NC_000020.9:g.30479708C>G NCBI36
NG_027868.1:g.74901C>G , LRG_630:g.74901C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.369C>G MANE Select ENSP00000364839.4:p.Asn123Lys
ENST00000470145.3:n.312C>G
ENST00000643168.1:c.285C>G ENSP00000495003.1:p.Asn95Lys
ENST00000644060.1:n.1173C>G
ENST00000644587.1:c.*208C>G ENSP00000494813.1:n.*208C>G
ENST00000644615.1:n.73C>G
ENST00000645514.1:n.117C>G
ENST00000646985.1:c.339C>G ENSP00000495053.1:p.Asn113Lys
ENST00000651418.1:c.369C>G ENSP00000499150.1:p.Asn123Lys
ENST00000306058.9:c.354C>G ENSP00000305119.5:p.Asn118Lys
ENST00000375687.8:c.369C>G ENSP00000364839.4:p.Asn123Lys
ENST00000470145.2:n.312C>G
ENST00000613218.4:c.369C>G ENSP00000480487.1:p.Asn123Lys
ENST00000620121.4:c.369C>G ENSP00000481978.1:p.Asn123Lys
NM_015338.5:c.369C>G , LRG_630t1:c.369C>G NP_056153.2:p.Asn123Lys
XM_006723727.2:c.366C>G XP_006723790.1:p.Asn122Lys
XM_006723728.2:c.339C>G XP_006723791.1:p.Asn113Lys
XM_006723730.2:c.285C>G XP_006723793.1:p.Asn95Lys
XM_006723732.2:c.339C>G XP_006723795.1:p.Asn113Lys
XM_011528647.1:c.633C>G XP_011526949.1:p.Asn211Lys
XM_011528648.1:c.630C>G XP_011526950.1:p.Asn210Lys
XM_011528649.1:c.549C>G XP_011526951.1:p.Asn183Lys
XM_011528650.1:c.633C>G XP_011526952.1:p.Asn211Lys
XM_011528651.1:c.348C>G XP_011526953.1:p.Asn116Lys
XM_011528652.1:c.285C>G XP_011526954.1:p.Asn95Lys
NM_001363734.1:c.339C>G NP_001350663.1:p.Asn113Lys
XM_006723727.3:c.366C>G XP_006723790.1:p.Asn122Lys
XM_006723728.3:c.339C>G XP_006723791.1:p.Asn113Lys
XM_006723730.4:c.285C>G XP_006723793.1:p.Asn95Lys
XM_011528648.3:c.630C>G XP_011526950.1:p.Asn210Lys
XM_011528652.2:c.285C>G XP_011526954.1:p.Asn95Lys
XM_017027704.1:c.285C>G XP_016883193.1:p.Asn95Lys
XM_017027705.1:c.285C>G XP_016883194.1:p.Asn95Lys
XM_017027706.1:c.369C>G XP_016883195.1:p.Asn123Lys
NM_015338.6:c.369C>G MANE Select NP_056153.2:p.Asn123Lys