Canonical Allele Identifier: CA408563306
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436265G>A , CM000682.2:g.32436265G>A GRCh38
NC_000020.10:g.31024068G>A , CM000682.1:g.31024068G>A GRCh37
NC_000020.9:g.30487729G>A NCBI36
NG_027868.1:g.82922G>A , LRG_630:g.82922G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3553G>A MANE Select ENSP00000364839.4:p.Gly1185Ser
ENST00000646985.1:c.3370G>A ENSP00000495053.1:p.Gly1124Ser
ENST00000647223.1:n.5906G>A
ENST00000651418.1:c.1869+1684G>A ENSP00000499150.1:n.1869+1684G>A
ENST00000306058.9:c.3538G>A ENSP00000305119.5:p.Gly1180Ser
ENST00000375687.8:c.3553G>A ENSP00000364839.4:p.Gly1185Ser
ENST00000613218.4:c.3553G>A ENSP00000480487.1:p.Gly1185Ser
ENST00000620121.4:c.3553G>A ENSP00000481978.1:p.Gly1185Ser
NM_015338.5:c.3553G>A , LRG_630t1:c.3553G>A NP_056153.2:p.Gly1185Ser
XM_006723727.2:c.3550G>A XP_006723790.1:p.Gly1184Ser
XM_006723728.2:c.3523G>A XP_006723791.1:p.Gly1175Ser
XM_006723730.2:c.3469G>A XP_006723793.1:p.Gly1157Ser
XM_006723732.2:c.3370G>A XP_006723795.1:p.Gly1124Ser
XM_006723733.1:c.2869G>A XP_006723796.1:p.Gly957Ser
XM_011528647.1:c.3817G>A XP_011526949.1:p.Gly1273Ser
XM_011528648.1:c.3814G>A XP_011526950.1:p.Gly1272Ser
XM_011528649.1:c.3733G>A XP_011526951.1:p.Gly1245Ser
XM_011528650.1:c.3664G>A XP_011526952.1:p.Gly1222Ser
XM_011528651.1:c.3532G>A XP_011526953.1:p.Gly1178Ser
XM_011528652.1:c.3469G>A XP_011526954.1:p.Gly1157Ser
NM_001363734.1:c.3370G>A NP_001350663.1:p.Gly1124Ser
XM_006723727.3:c.3550G>A XP_006723790.1:p.Gly1184Ser
XM_006723728.3:c.3523G>A XP_006723791.1:p.Gly1175Ser
XM_006723730.4:c.3469G>A XP_006723793.1:p.Gly1157Ser
XM_011528648.3:c.3814G>A XP_011526950.1:p.Gly1272Ser
XM_011528652.2:c.3469G>A XP_011526954.1:p.Gly1157Ser
XM_017027704.1:c.3469G>A XP_016883193.1:p.Gly1157Ser
XM_017027705.1:c.3469G>A XP_016883194.1:p.Gly1157Ser
XM_017027706.1:c.3400G>A XP_016883195.1:p.Gly1134Ser
NM_015338.6:c.3553G>A MANE Select NP_056153.2:p.Gly1185Ser