Canonical Allele Identifier: CA408562652
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435957T>C , CM000682.2:g.32435957T>C GRCh38
NC_000020.10:g.31023760T>C , CM000682.1:g.31023760T>C GRCh37
NC_000020.9:g.30487421T>C NCBI36
NG_027868.1:g.82614T>C , LRG_630:g.82614T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3245T>C MANE Select ENSP00000364839.4:p.Leu1082Pro
ENST00000646985.1:c.3062T>C ENSP00000495053.1:p.Leu1021Pro
ENST00000647223.1:n.5598T>C
ENST00000651418.1:c.1869+1376T>C ENSP00000499150.1:n.1869+1376T>C
ENST00000306058.9:c.3230T>C ENSP00000305119.5:p.Leu1077Pro
ENST00000375687.8:c.3245T>C ENSP00000364839.4:p.Leu1082Pro
ENST00000613218.4:c.3245T>C ENSP00000480487.1:p.Leu1082Pro
ENST00000620121.4:c.3245T>C ENSP00000481978.1:p.Leu1082Pro
NM_015338.5:c.3245T>C , LRG_630t1:c.3245T>C NP_056153.2:p.Leu1082Pro
XM_006723727.2:c.3242T>C XP_006723790.1:p.Leu1081Pro
XM_006723728.2:c.3215T>C XP_006723791.1:p.Leu1072Pro
XM_006723730.2:c.3161T>C XP_006723793.1:p.Leu1054Pro
XM_006723732.2:c.3062T>C XP_006723795.1:p.Leu1021Pro
XM_006723733.1:c.2561T>C XP_006723796.1:p.Leu854Pro
XM_011528647.1:c.3509T>C XP_011526949.1:p.Leu1170Pro
XM_011528648.1:c.3506T>C XP_011526950.1:p.Leu1169Pro
XM_011528649.1:c.3425T>C XP_011526951.1:p.Leu1142Pro
XM_011528650.1:c.3356T>C XP_011526952.1:p.Leu1119Pro
XM_011528651.1:c.3224T>C XP_011526953.1:p.Leu1075Pro
XM_011528652.1:c.3161T>C XP_011526954.1:p.Leu1054Pro
NM_001363734.1:c.3062T>C NP_001350663.1:p.Leu1021Pro
XM_006723727.3:c.3242T>C XP_006723790.1:p.Leu1081Pro
XM_006723728.3:c.3215T>C XP_006723791.1:p.Leu1072Pro
XM_006723730.4:c.3161T>C XP_006723793.1:p.Leu1054Pro
XM_011528648.3:c.3506T>C XP_011526950.1:p.Leu1169Pro
XM_011528652.2:c.3161T>C XP_011526954.1:p.Leu1054Pro
XM_017027704.1:c.3161T>C XP_016883193.1:p.Leu1054Pro
XM_017027705.1:c.3161T>C XP_016883194.1:p.Leu1054Pro
XM_017027706.1:c.3092T>C XP_016883195.1:p.Leu1031Pro
NM_015338.6:c.3245T>C MANE Select NP_056153.2:p.Leu1082Pro