Canonical Allele Identifier: CA408563824
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436509T>C , CM000682.2:g.32436509T>C GRCh38
NC_000020.10:g.31024312T>C , CM000682.1:g.31024312T>C GRCh37
NC_000020.9:g.30487973T>C NCBI36
NG_027868.1:g.83166T>C , LRG_630:g.83166T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3797T>C MANE Select ENSP00000364839.4:p.Leu1266Pro
ENST00000646985.1:c.3614T>C ENSP00000495053.1:p.Leu1205Pro
ENST00000647223.1:n.6150T>C
ENST00000651418.1:c.1870-1921T>C ENSP00000499150.1:n.1870-1921T>C
ENST00000306058.9:c.3782T>C ENSP00000305119.5:p.Leu1261Pro
ENST00000375687.8:c.3797T>C ENSP00000364839.4:p.Leu1266Pro
ENST00000613218.4:c.3797T>C ENSP00000480487.1:p.Leu1266Pro
ENST00000620121.4:c.3797T>C ENSP00000481978.1:p.Leu1266Pro
NM_015338.5:c.3797T>C , LRG_630t1:c.3797T>C NP_056153.2:p.Leu1266Pro
XM_006723727.2:c.3794T>C XP_006723790.1:p.Leu1265Pro
XM_006723728.2:c.3767T>C XP_006723791.1:p.Leu1256Pro
XM_006723730.2:c.3713T>C XP_006723793.1:p.Leu1238Pro
XM_006723732.2:c.3614T>C XP_006723795.1:p.Leu1205Pro
XM_006723733.1:c.3113T>C XP_006723796.1:p.Leu1038Pro
XM_011528647.1:c.4061T>C XP_011526949.1:p.Leu1354Pro
XM_011528648.1:c.4058T>C XP_011526950.1:p.Leu1353Pro
XM_011528649.1:c.3977T>C XP_011526951.1:p.Leu1326Pro
XM_011528650.1:c.3908T>C XP_011526952.1:p.Leu1303Pro
XM_011528651.1:c.3776T>C XP_011526953.1:p.Leu1259Pro
XM_011528652.1:c.3713T>C XP_011526954.1:p.Leu1238Pro
NM_001363734.1:c.3614T>C NP_001350663.1:p.Leu1205Pro
XM_006723727.3:c.3794T>C XP_006723790.1:p.Leu1265Pro
XM_006723728.3:c.3767T>C XP_006723791.1:p.Leu1256Pro
XM_006723730.4:c.3713T>C XP_006723793.1:p.Leu1238Pro
XM_011528648.3:c.4058T>C XP_011526950.1:p.Leu1353Pro
XM_011528652.2:c.3713T>C XP_011526954.1:p.Leu1238Pro
XM_017027704.1:c.3713T>C XP_016883193.1:p.Leu1238Pro
XM_017027705.1:c.3713T>C XP_016883194.1:p.Leu1238Pro
XM_017027706.1:c.3644T>C XP_016883195.1:p.Leu1215Pro
NM_015338.6:c.3797T>C MANE Select NP_056153.2:p.Leu1266Pro