Canonical Allele Identifier: CA408562873
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436060G>T , CM000682.2:g.32436060G>T GRCh38
NC_000020.10:g.31023863G>T , CM000682.1:g.31023863G>T GRCh37
NC_000020.9:g.30487524G>T NCBI36
NG_027868.1:g.82717G>T , LRG_630:g.82717G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3348G>T MANE Select ENSP00000364839.4:p.Leu1116Phe
ENST00000646985.1:c.3165G>T ENSP00000495053.1:p.Leu1055Phe
ENST00000647223.1:n.5701G>T
ENST00000651418.1:c.1869+1479G>T ENSP00000499150.1:n.1869+1479G>T
ENST00000306058.9:c.3333G>T ENSP00000305119.5:p.Leu1111Phe
ENST00000375687.8:c.3348G>T ENSP00000364839.4:p.Leu1116Phe
ENST00000613218.4:c.3348G>T ENSP00000480487.1:p.Leu1116Phe
ENST00000620121.4:c.3348G>T ENSP00000481978.1:p.Leu1116Phe
NM_015338.5:c.3348G>T , LRG_630t1:c.3348G>T NP_056153.2:p.Leu1116Phe
XM_006723727.2:c.3345G>T XP_006723790.1:p.Leu1115Phe
XM_006723728.2:c.3318G>T XP_006723791.1:p.Leu1106Phe
XM_006723730.2:c.3264G>T XP_006723793.1:p.Leu1088Phe
XM_006723732.2:c.3165G>T XP_006723795.1:p.Leu1055Phe
XM_006723733.1:c.2664G>T XP_006723796.1:p.Leu888Phe
XM_011528647.1:c.3612G>T XP_011526949.1:p.Leu1204Phe
XM_011528648.1:c.3609G>T XP_011526950.1:p.Leu1203Phe
XM_011528649.1:c.3528G>T XP_011526951.1:p.Leu1176Phe
XM_011528650.1:c.3459G>T XP_011526952.1:p.Leu1153Phe
XM_011528651.1:c.3327G>T XP_011526953.1:p.Leu1109Phe
XM_011528652.1:c.3264G>T XP_011526954.1:p.Leu1088Phe
NM_001363734.1:c.3165G>T NP_001350663.1:p.Leu1055Phe
XM_006723727.3:c.3345G>T XP_006723790.1:p.Leu1115Phe
XM_006723728.3:c.3318G>T XP_006723791.1:p.Leu1106Phe
XM_006723730.4:c.3264G>T XP_006723793.1:p.Leu1088Phe
XM_011528648.3:c.3609G>T XP_011526950.1:p.Leu1203Phe
XM_011528652.2:c.3264G>T XP_011526954.1:p.Leu1088Phe
XM_017027704.1:c.3264G>T XP_016883193.1:p.Leu1088Phe
XM_017027705.1:c.3264G>T XP_016883194.1:p.Leu1088Phe
XM_017027706.1:c.3195G>T XP_016883195.1:p.Leu1065Phe
NM_015338.6:c.3348G>T MANE Select NP_056153.2:p.Leu1116Phe