Canonical Allele Identifier: CA408551568
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428207G>T , CM000682.2:g.32428207G>T GRCh38
NC_000020.10:g.31016010G>T , CM000682.1:g.31016010G>T GRCh37
NC_000020.9:g.30479671G>T NCBI36
NG_027868.1:g.74864G>T , LRG_630:g.74864G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.332G>T MANE Select ENSP00000364839.4:p.Cys111Phe
ENST00000470145.3:n.275G>T
ENST00000643168.1:c.248G>T ENSP00000495003.1:p.Cys83Phe
ENST00000644060.1:n.1136G>T
ENST00000644587.1:c.*171G>T ENSP00000494813.1:n.*171G>T
ENST00000644615.1:n.36G>T
ENST00000645514.1:n.80G>T
ENST00000646985.1:c.302G>T ENSP00000495053.1:p.Cys101Phe
ENST00000651418.1:c.332G>T ENSP00000499150.1:p.Cys111Phe
ENST00000306058.9:c.317G>T ENSP00000305119.5:p.Cys106Phe
ENST00000375687.8:c.332G>T ENSP00000364839.4:p.Cys111Phe
ENST00000470145.2:n.275G>T
ENST00000613218.4:c.332G>T ENSP00000480487.1:p.Cys111Phe
ENST00000620121.4:c.332G>T ENSP00000481978.1:p.Cys111Phe
NM_015338.5:c.332G>T , LRG_630t1:c.332G>T NP_056153.2:p.Cys111Phe
XM_006723727.2:c.329G>T XP_006723790.1:p.Cys110Phe
XM_006723728.2:c.302G>T XP_006723791.1:p.Cys101Phe
XM_006723730.2:c.248G>T XP_006723793.1:p.Cys83Phe
XM_006723732.2:c.302G>T XP_006723795.1:p.Cys101Phe
XM_011528647.1:c.596G>T XP_011526949.1:p.Cys199Phe
XM_011528648.1:c.593G>T XP_011526950.1:p.Cys198Phe
XM_011528649.1:c.512G>T XP_011526951.1:p.Cys171Phe
XM_011528650.1:c.596G>T XP_011526952.1:p.Cys199Phe
XM_011528651.1:c.311G>T XP_011526953.1:p.Cys104Phe
XM_011528652.1:c.248G>T XP_011526954.1:p.Cys83Phe
NM_001363734.1:c.302G>T NP_001350663.1:p.Cys101Phe
XM_006723727.3:c.329G>T XP_006723790.1:p.Cys110Phe
XM_006723728.3:c.302G>T XP_006723791.1:p.Cys101Phe
XM_006723730.4:c.248G>T XP_006723793.1:p.Cys83Phe
XM_011528648.3:c.593G>T XP_011526950.1:p.Cys198Phe
XM_011528652.2:c.248G>T XP_011526954.1:p.Cys83Phe
XM_017027704.1:c.248G>T XP_016883193.1:p.Cys83Phe
XM_017027705.1:c.248G>T XP_016883194.1:p.Cys83Phe
XM_017027706.1:c.332G>T XP_016883195.1:p.Cys111Phe
NM_015338.6:c.332G>T MANE Select NP_056153.2:p.Cys111Phe