Canonical Allele Identifier: CA2360293704
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436450C= , CM000682.2:g.32436450C= GRCh38
NC_000020.10:g.31024253C= , CM000682.1:g.31024253C= GRCh37
NC_000020.9:g.30487914C= NCBI36
NG_027868.1:g.83107C= , LRG_630:g.83107C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3738C= MANE Select ENSP00000364839.4:p.Val1246=
ENST00000646985.1:c.3555C= ENSP00000495053.1:p.Val1185=
ENST00000647223.1:n.6091C=
ENST00000651418.1:c.1869+1869C= ENSP00000499150.1:n.1869+1869C=
ENST00000306058.9:c.3723C= ENSP00000305119.5:p.Val1241=
ENST00000375687.8:c.3738C= ENSP00000364839.4:p.Val1246=
ENST00000613218.4:c.3738C= ENSP00000480487.1:p.Val1246=
ENST00000620121.4:c.3738C= ENSP00000481978.1:p.Val1246=
NM_015338.5:c.3738C= , LRG_630t1:c.3738C= NP_056153.2:p.Val1246=
XM_006723727.2:c.3735C= XP_006723790.1:p.Val1245=
XM_006723728.2:c.3708C= XP_006723791.1:p.Val1236=
XM_006723730.2:c.3654C= XP_006723793.1:p.Val1218=
XM_006723732.2:c.3555C= XP_006723795.1:p.Val1185=
XM_006723733.1:c.3054C= XP_006723796.1:p.Val1018=
XM_011528647.1:c.4002C= XP_011526949.1:p.Val1334=
XM_011528648.1:c.3999C= XP_011526950.1:p.Val1333=
XM_011528649.1:c.3918C= XP_011526951.1:p.Val1306=
XM_011528650.1:c.3849C= XP_011526952.1:p.Val1283=
XM_011528651.1:c.3717C= XP_011526953.1:p.Val1239=
XM_011528652.1:c.3654C= XP_011526954.1:p.Val1218=
NM_001363734.1:c.3555C= NP_001350663.1:p.Val1185=
XM_006723727.3:c.3735C= XP_006723790.1:p.Val1245=
XM_006723728.3:c.3708C= XP_006723791.1:p.Val1236=
XM_006723730.4:c.3654C= XP_006723793.1:p.Val1218=
XM_011528648.3:c.3999C= XP_011526950.1:p.Val1333=
XM_011528652.2:c.3654C= XP_011526954.1:p.Val1218=
XM_017027704.1:c.3654C= XP_016883193.1:p.Val1218=
XM_017027705.1:c.3654C= XP_016883194.1:p.Val1218=
XM_017027706.1:c.3585C= XP_016883195.1:p.Val1195=
NM_015338.6:c.3738C= MANE Select NP_056153.2:p.Val1246=