Canonical Allele Identifier: CA408564142
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436668C>G , CM000682.2:g.32436668C>G GRCh38
NC_000020.10:g.31024471C>G , CM000682.1:g.31024471C>G GRCh37
NC_000020.9:g.30488132C>G NCBI36
NG_027868.1:g.83325C>G , LRG_630:g.83325C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3956C>G MANE Select ENSP00000364839.4:p.Pro1319Arg
ENST00000646985.1:c.3773C>G ENSP00000495053.1:p.Pro1258Arg
ENST00000647223.1:n.6309C>G
ENST00000651418.1:c.1870-1762C>G ENSP00000499150.1:n.1870-1762C>G
ENST00000306058.9:c.3941C>G ENSP00000305119.5:p.Pro1314Arg
ENST00000375687.8:c.3956C>G ENSP00000364839.4:p.Pro1319Arg
ENST00000613218.4:c.3956C>G ENSP00000480487.1:p.Pro1319Arg
ENST00000620121.4:c.3956C>G ENSP00000481978.1:p.Pro1319Arg
NM_015338.5:c.3956C>G , LRG_630t1:c.3956C>G NP_056153.2:p.Pro1319Arg
XM_006723727.2:c.3953C>G XP_006723790.1:p.Pro1318Arg
XM_006723728.2:c.3926C>G XP_006723791.1:p.Pro1309Arg
XM_006723730.2:c.3872C>G XP_006723793.1:p.Pro1291Arg
XM_006723732.2:c.3773C>G XP_006723795.1:p.Pro1258Arg
XM_006723733.1:c.3272C>G XP_006723796.1:p.Pro1091Arg
XM_011528647.1:c.4220C>G XP_011526949.1:p.Pro1407Arg
XM_011528648.1:c.4217C>G XP_011526950.1:p.Pro1406Arg
XM_011528649.1:c.4136C>G XP_011526951.1:p.Pro1379Arg
XM_011528650.1:c.4067C>G XP_011526952.1:p.Pro1356Arg
XM_011528651.1:c.3935C>G XP_011526953.1:p.Pro1312Arg
XM_011528652.1:c.3872C>G XP_011526954.1:p.Pro1291Arg
NM_001363734.1:c.3773C>G NP_001350663.1:p.Pro1258Arg
XM_006723727.3:c.3953C>G XP_006723790.1:p.Pro1318Arg
XM_006723728.3:c.3926C>G XP_006723791.1:p.Pro1309Arg
XM_006723730.4:c.3872C>G XP_006723793.1:p.Pro1291Arg
XM_011528648.3:c.4217C>G XP_011526950.1:p.Pro1406Arg
XM_011528652.2:c.3872C>G XP_011526954.1:p.Pro1291Arg
XM_017027704.1:c.3872C>G XP_016883193.1:p.Pro1291Arg
XM_017027705.1:c.3872C>G XP_016883194.1:p.Pro1291Arg
XM_017027706.1:c.3803C>G XP_016883195.1:p.Pro1268Arg
NM_015338.6:c.3956C>G MANE Select NP_056153.2:p.Pro1319Arg