Canonical Allele Identifier: CA2360293525
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436086C= , CM000682.2:g.32436086C= GRCh38
NC_000020.10:g.31023889C= , CM000682.1:g.31023889C= GRCh37
NC_000020.9:g.30487550C= NCBI36
NG_027868.1:g.82743C= , LRG_630:g.82743C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3374C= MANE Select ENSP00000364839.4:p.Ala1125=
ENST00000646985.1:c.3191C= ENSP00000495053.1:p.Ala1064=
ENST00000647223.1:n.5727C=
ENST00000651418.1:c.1869+1505C= ENSP00000499150.1:n.1869+1505C=
ENST00000306058.9:c.3359C= ENSP00000305119.5:p.Ala1120=
ENST00000375687.8:c.3374C= ENSP00000364839.4:p.Ala1125=
ENST00000613218.4:c.3374C= ENSP00000480487.1:p.Ala1125=
ENST00000620121.4:c.3374C= ENSP00000481978.1:p.Ala1125=
NM_015338.5:c.3374C= , LRG_630t1:c.3374C= NP_056153.2:p.Ala1125=
XM_006723727.2:c.3371C= XP_006723790.1:p.Ala1124=
XM_006723728.2:c.3344C= XP_006723791.1:p.Ala1115=
XM_006723730.2:c.3290C= XP_006723793.1:p.Ala1097=
XM_006723732.2:c.3191C= XP_006723795.1:p.Ala1064=
XM_006723733.1:c.2690C= XP_006723796.1:p.Ala897=
XM_011528647.1:c.3638C= XP_011526949.1:p.Ala1213=
XM_011528648.1:c.3635C= XP_011526950.1:p.Ala1212=
XM_011528649.1:c.3554C= XP_011526951.1:p.Ala1185=
XM_011528650.1:c.3485C= XP_011526952.1:p.Ala1162=
XM_011528651.1:c.3353C= XP_011526953.1:p.Ala1118=
XM_011528652.1:c.3290C= XP_011526954.1:p.Ala1097=
NM_001363734.1:c.3191C= NP_001350663.1:p.Ala1064=
XM_006723727.3:c.3371C= XP_006723790.1:p.Ala1124=
XM_006723728.3:c.3344C= XP_006723791.1:p.Ala1115=
XM_006723730.4:c.3290C= XP_006723793.1:p.Ala1097=
XM_011528648.3:c.3635C= XP_011526950.1:p.Ala1212=
XM_011528652.2:c.3290C= XP_011526954.1:p.Ala1097=
XM_017027704.1:c.3290C= XP_016883193.1:p.Ala1097=
XM_017027705.1:c.3290C= XP_016883194.1:p.Ala1097=
XM_017027706.1:c.3221C= XP_016883195.1:p.Ala1074=
NM_015338.6:c.3374C= MANE Select NP_056153.2:p.Ala1125=