Canonical Allele Identifier: CA408562643
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435951T>G , CM000682.2:g.32435951T>G GRCh38
NC_000020.10:g.31023754T>G , CM000682.1:g.31023754T>G GRCh37
NC_000020.9:g.30487415T>G NCBI36
NG_027868.1:g.82608T>G , LRG_630:g.82608T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3239T>G MANE Select ENSP00000364839.4:p.Leu1080Arg
ENST00000646985.1:c.3056T>G ENSP00000495053.1:p.Leu1019Arg
ENST00000647223.1:n.5592T>G
ENST00000651418.1:c.1869+1370T>G ENSP00000499150.1:n.1869+1370T>G
ENST00000306058.9:c.3224T>G ENSP00000305119.5:p.Leu1075Arg
ENST00000375687.8:c.3239T>G ENSP00000364839.4:p.Leu1080Arg
ENST00000613218.4:c.3239T>G ENSP00000480487.1:p.Leu1080Arg
ENST00000620121.4:c.3239T>G ENSP00000481978.1:p.Leu1080Arg
NM_015338.5:c.3239T>G , LRG_630t1:c.3239T>G NP_056153.2:p.Leu1080Arg
XM_006723727.2:c.3236T>G XP_006723790.1:p.Leu1079Arg
XM_006723728.2:c.3209T>G XP_006723791.1:p.Leu1070Arg
XM_006723730.2:c.3155T>G XP_006723793.1:p.Leu1052Arg
XM_006723732.2:c.3056T>G XP_006723795.1:p.Leu1019Arg
XM_006723733.1:c.2555T>G XP_006723796.1:p.Leu852Arg
XM_011528647.1:c.3503T>G XP_011526949.1:p.Leu1168Arg
XM_011528648.1:c.3500T>G XP_011526950.1:p.Leu1167Arg
XM_011528649.1:c.3419T>G XP_011526951.1:p.Leu1140Arg
XM_011528650.1:c.3350T>G XP_011526952.1:p.Leu1117Arg
XM_011528651.1:c.3218T>G XP_011526953.1:p.Leu1073Arg
XM_011528652.1:c.3155T>G XP_011526954.1:p.Leu1052Arg
NM_001363734.1:c.3056T>G NP_001350663.1:p.Leu1019Arg
XM_006723727.3:c.3236T>G XP_006723790.1:p.Leu1079Arg
XM_006723728.3:c.3209T>G XP_006723791.1:p.Leu1070Arg
XM_006723730.4:c.3155T>G XP_006723793.1:p.Leu1052Arg
XM_011528648.3:c.3500T>G XP_011526950.1:p.Leu1167Arg
XM_011528652.2:c.3155T>G XP_011526954.1:p.Leu1052Arg
XM_017027704.1:c.3155T>G XP_016883193.1:p.Leu1052Arg
XM_017027705.1:c.3155T>G XP_016883194.1:p.Leu1052Arg
XM_017027706.1:c.3086T>G XP_016883195.1:p.Leu1029Arg
NM_015338.6:c.3239T>G MANE Select NP_056153.2:p.Leu1080Arg