Canonical Allele Identifier: CA408564208
Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2632627
ClinVar RCV Id: RCV004550796

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436701C>G , CM000682.2:g.32436701C>G GRCh38
NC_000020.10:g.31024504C>G , CM000682.1:g.31024504C>G GRCh37
NC_000020.9:g.30488165C>G NCBI36
NG_027868.1:g.83358C>G , LRG_630:g.83358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3989C>G MANE Select ENSP00000364839.4:p.Pro1330Arg
ENST00000646985.1:c.3806C>G ENSP00000495053.1:p.Pro1269Arg
ENST00000647223.1:n.6342C>G
ENST00000651418.1:c.1870-1729C>G ENSP00000499150.1:n.1870-1729C>G
ENST00000306058.9:c.3974C>G ENSP00000305119.5:p.Pro1325Arg
ENST00000375687.8:c.3989C>G ENSP00000364839.4:p.Pro1330Arg
ENST00000613218.4:c.3989C>G ENSP00000480487.1:p.Pro1330Arg
ENST00000620121.4:c.3989C>G ENSP00000481978.1:p.Pro1330Arg
NM_015338.5:c.3989C>G , LRG_630t1:c.3989C>G NP_056153.2:p.Pro1330Arg
XM_006723727.2:c.3986C>G XP_006723790.1:p.Pro1329Arg
XM_006723728.2:c.3959C>G XP_006723791.1:p.Pro1320Arg
XM_006723730.2:c.3905C>G XP_006723793.1:p.Pro1302Arg
XM_006723732.2:c.3806C>G XP_006723795.1:p.Pro1269Arg
XM_006723733.1:c.3305C>G XP_006723796.1:p.Pro1102Arg
XM_011528647.1:c.4253C>G XP_011526949.1:p.Pro1418Arg
XM_011528648.1:c.4250C>G XP_011526950.1:p.Pro1417Arg
XM_011528649.1:c.4169C>G XP_011526951.1:p.Pro1390Arg
XM_011528650.1:c.4100C>G XP_011526952.1:p.Pro1367Arg
XM_011528651.1:c.3968C>G XP_011526953.1:p.Pro1323Arg
XM_011528652.1:c.3905C>G XP_011526954.1:p.Pro1302Arg
NM_001363734.1:c.3806C>G NP_001350663.1:p.Pro1269Arg
XM_006723727.3:c.3986C>G XP_006723790.1:p.Pro1329Arg
XM_006723728.3:c.3959C>G XP_006723791.1:p.Pro1320Arg
XM_006723730.4:c.3905C>G XP_006723793.1:p.Pro1302Arg
XM_011528648.3:c.4250C>G XP_011526950.1:p.Pro1417Arg
XM_011528652.2:c.3905C>G XP_011526954.1:p.Pro1302Arg
XM_017027704.1:c.3905C>G XP_016883193.1:p.Pro1302Arg
XM_017027705.1:c.3905C>G XP_016883194.1:p.Pro1302Arg
XM_017027706.1:c.3836C>G XP_016883195.1:p.Pro1279Arg
NM_015338.6:c.3989C>G MANE Select NP_056153.2:p.Pro1330Arg