Canonical Allele Identifier: CA510467643
Gene: ASXL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.31024589A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436786A>C , CM000682.2:g.32436786A>C GRCh38
NC_000020.10:g.31024589A>C , CM000682.1:g.31024589A>C GRCh37
NC_000020.9:g.30488250A>C NCBI36
NG_027868.1:g.83443A>C , LRG_630:g.83443A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.4074A>C MANE Select ENSP00000364839.4:p.Pro1358=
ENST00000646985.1:c.3891A>C ENSP00000495053.1:p.Pro1297=
ENST00000647223.1:n.6427A>C
ENST00000651418.1:c.1870-1644A>C ENSP00000499150.1:n.1870-1644A>C
ENST00000306058.9:c.4059A>C ENSP00000305119.5:p.Pro1353=
ENST00000375687.8:c.4074A>C ENSP00000364839.4:p.Pro1358=
ENST00000613218.4:c.4074A>C ENSP00000480487.1:p.Pro1358=
ENST00000620121.4:c.4074A>C ENSP00000481978.1:p.Pro1358=
NM_015338.5:c.4074A>C , LRG_630t1:c.4074A>C NP_056153.2:p.Pro1358=
XM_006723727.2:c.4071A>C XP_006723790.1:p.Pro1357=
XM_006723728.2:c.4044A>C XP_006723791.1:p.Pro1348=
XM_006723730.2:c.3990A>C XP_006723793.1:p.Pro1330=
XM_006723732.2:c.3891A>C XP_006723795.1:p.Pro1297=
XM_006723733.1:c.3390A>C XP_006723796.1:p.Pro1130=
XM_011528647.1:c.4338A>C XP_011526949.1:p.Pro1446=
XM_011528648.1:c.4335A>C XP_011526950.1:p.Pro1445=
XM_011528649.1:c.4254A>C XP_011526951.1:p.Pro1418=
XM_011528650.1:c.4185A>C XP_011526952.1:p.Pro1395=
XM_011528651.1:c.4053A>C XP_011526953.1:p.Pro1351=
XM_011528652.1:c.3990A>C XP_011526954.1:p.Pro1330=
NM_001363734.1:c.3891A>C NP_001350663.1:p.Pro1297=
XM_006723727.3:c.4071A>C XP_006723790.1:p.Pro1357=
XM_006723728.3:c.4044A>C XP_006723791.1:p.Pro1348=
XM_006723730.4:c.3990A>C XP_006723793.1:p.Pro1330=
XM_011528648.3:c.4335A>C XP_011526950.1:p.Pro1445=
XM_011528652.2:c.3990A>C XP_011526954.1:p.Pro1330=
XM_017027704.1:c.3990A>C XP_016883193.1:p.Pro1330=
XM_017027705.1:c.3990A>C XP_016883194.1:p.Pro1330=
XM_017027706.1:c.3921A>C XP_016883195.1:p.Pro1307=
NM_015338.6:c.4074A>C MANE Select NP_056153.2:p.Pro1358=