Canonical Allele Identifier: CA408563967
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436583C>G , CM000682.2:g.32436583C>G GRCh38
NC_000020.10:g.31024386C>G , CM000682.1:g.31024386C>G GRCh37
NC_000020.9:g.30488047C>G NCBI36
NG_027868.1:g.83240C>G , LRG_630:g.83240C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3871C>G MANE Select ENSP00000364839.4:p.Leu1291Val
ENST00000646985.1:c.3688C>G ENSP00000495053.1:p.Leu1230Val
ENST00000647223.1:n.6224C>G
ENST00000651418.1:c.1870-1847C>G ENSP00000499150.1:n.1870-1847C>G
ENST00000306058.9:c.3856C>G ENSP00000305119.5:p.Leu1286Val
ENST00000375687.8:c.3871C>G ENSP00000364839.4:p.Leu1291Val
ENST00000613218.4:c.3871C>G ENSP00000480487.1:p.Leu1291Val
ENST00000620121.4:c.3871C>G ENSP00000481978.1:p.Leu1291Val
NM_015338.5:c.3871C>G , LRG_630t1:c.3871C>G NP_056153.2:p.Leu1291Val
XM_006723727.2:c.3868C>G XP_006723790.1:p.Leu1290Val
XM_006723728.2:c.3841C>G XP_006723791.1:p.Leu1281Val
XM_006723730.2:c.3787C>G XP_006723793.1:p.Leu1263Val
XM_006723732.2:c.3688C>G XP_006723795.1:p.Leu1230Val
XM_006723733.1:c.3187C>G XP_006723796.1:p.Leu1063Val
XM_011528647.1:c.4135C>G XP_011526949.1:p.Leu1379Val
XM_011528648.1:c.4132C>G XP_011526950.1:p.Leu1378Val
XM_011528649.1:c.4051C>G XP_011526951.1:p.Leu1351Val
XM_011528650.1:c.3982C>G XP_011526952.1:p.Leu1328Val
XM_011528651.1:c.3850C>G XP_011526953.1:p.Leu1284Val
XM_011528652.1:c.3787C>G XP_011526954.1:p.Leu1263Val
NM_001363734.1:c.3688C>G NP_001350663.1:p.Leu1230Val
XM_006723727.3:c.3868C>G XP_006723790.1:p.Leu1290Val
XM_006723728.3:c.3841C>G XP_006723791.1:p.Leu1281Val
XM_006723730.4:c.3787C>G XP_006723793.1:p.Leu1263Val
XM_011528648.3:c.4132C>G XP_011526950.1:p.Leu1378Val
XM_011528652.2:c.3787C>G XP_011526954.1:p.Leu1263Val
XM_017027704.1:c.3787C>G XP_016883193.1:p.Leu1263Val
XM_017027705.1:c.3787C>G XP_016883194.1:p.Leu1263Val
XM_017027706.1:c.3718C>G XP_016883195.1:p.Leu1240Val
NM_015338.6:c.3871C>G MANE Select NP_056153.2:p.Leu1291Val