Canonical Allele Identifier: CA2360293702
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436442A= , CM000682.2:g.32436442A= GRCh38
NC_000020.10:g.31024245A= , CM000682.1:g.31024245A= GRCh37
NC_000020.9:g.30487906A= NCBI36
NG_027868.1:g.83099A= , LRG_630:g.83099A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3730A= MANE Select ENSP00000364839.4:p.Lys1244=
ENST00000646985.1:c.3547A= ENSP00000495053.1:p.Lys1183=
ENST00000647223.1:n.6083A=
ENST00000651418.1:c.1869+1861A= ENSP00000499150.1:n.1869+1861A=
ENST00000306058.9:c.3715A= ENSP00000305119.5:p.Lys1239=
ENST00000375687.8:c.3730A= ENSP00000364839.4:p.Lys1244=
ENST00000613218.4:c.3730A= ENSP00000480487.1:p.Lys1244=
ENST00000620121.4:c.3730A= ENSP00000481978.1:p.Lys1244=
NM_015338.5:c.3730A= , LRG_630t1:c.3730A= NP_056153.2:p.Lys1244=
XM_006723727.2:c.3727A= XP_006723790.1:p.Lys1243=
XM_006723728.2:c.3700A= XP_006723791.1:p.Lys1234=
XM_006723730.2:c.3646A= XP_006723793.1:p.Lys1216=
XM_006723732.2:c.3547A= XP_006723795.1:p.Lys1183=
XM_006723733.1:c.3046A= XP_006723796.1:p.Lys1016=
XM_011528647.1:c.3994A= XP_011526949.1:p.Lys1332=
XM_011528648.1:c.3991A= XP_011526950.1:p.Lys1331=
XM_011528649.1:c.3910A= XP_011526951.1:p.Lys1304=
XM_011528650.1:c.3841A= XP_011526952.1:p.Lys1281=
XM_011528651.1:c.3709A= XP_011526953.1:p.Lys1237=
XM_011528652.1:c.3646A= XP_011526954.1:p.Lys1216=
NM_001363734.1:c.3547A= NP_001350663.1:p.Lys1183=
XM_006723727.3:c.3727A= XP_006723790.1:p.Lys1243=
XM_006723728.3:c.3700A= XP_006723791.1:p.Lys1234=
XM_006723730.4:c.3646A= XP_006723793.1:p.Lys1216=
XM_011528648.3:c.3991A= XP_011526950.1:p.Lys1331=
XM_011528652.2:c.3646A= XP_011526954.1:p.Lys1216=
XM_017027704.1:c.3646A= XP_016883193.1:p.Lys1216=
XM_017027705.1:c.3646A= XP_016883194.1:p.Lys1216=
XM_017027706.1:c.3577A= XP_016883195.1:p.Lys1193=
NM_015338.6:c.3730A= MANE Select NP_056153.2:p.Lys1244=