Canonical Allele Identifier: CA408563618
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436414G>T , CM000682.2:g.32436414G>T GRCh38
NC_000020.10:g.31024217G>T , CM000682.1:g.31024217G>T GRCh37
NC_000020.9:g.30487878G>T NCBI36
NG_027868.1:g.83071G>T , LRG_630:g.83071G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3702G>T MANE Select ENSP00000364839.4:p.Gln1234His
ENST00000646985.1:c.3519G>T ENSP00000495053.1:p.Gln1173His
ENST00000647223.1:n.6055G>T
ENST00000651418.1:c.1869+1833G>T ENSP00000499150.1:n.1869+1833G>T
ENST00000306058.9:c.3687G>T ENSP00000305119.5:p.Gln1229His
ENST00000375687.8:c.3702G>T ENSP00000364839.4:p.Gln1234His
ENST00000613218.4:c.3702G>T ENSP00000480487.1:p.Gln1234His
ENST00000620121.4:c.3702G>T ENSP00000481978.1:p.Gln1234His
NM_015338.5:c.3702G>T , LRG_630t1:c.3702G>T NP_056153.2:p.Gln1234His
XM_006723727.2:c.3699G>T XP_006723790.1:p.Gln1233His
XM_006723728.2:c.3672G>T XP_006723791.1:p.Gln1224His
XM_006723730.2:c.3618G>T XP_006723793.1:p.Gln1206His
XM_006723732.2:c.3519G>T XP_006723795.1:p.Gln1173His
XM_006723733.1:c.3018G>T XP_006723796.1:p.Gln1006His
XM_011528647.1:c.3966G>T XP_011526949.1:p.Gln1322His
XM_011528648.1:c.3963G>T XP_011526950.1:p.Gln1321His
XM_011528649.1:c.3882G>T XP_011526951.1:p.Gln1294His
XM_011528650.1:c.3813G>T XP_011526952.1:p.Gln1271His
XM_011528651.1:c.3681G>T XP_011526953.1:p.Gln1227His
XM_011528652.1:c.3618G>T XP_011526954.1:p.Gln1206His
NM_001363734.1:c.3519G>T NP_001350663.1:p.Gln1173His
XM_006723727.3:c.3699G>T XP_006723790.1:p.Gln1233His
XM_006723728.3:c.3672G>T XP_006723791.1:p.Gln1224His
XM_006723730.4:c.3618G>T XP_006723793.1:p.Gln1206His
XM_011528648.3:c.3963G>T XP_011526950.1:p.Gln1321His
XM_011528652.2:c.3618G>T XP_011526954.1:p.Gln1206His
XM_017027704.1:c.3618G>T XP_016883193.1:p.Gln1206His
XM_017027705.1:c.3618G>T XP_016883194.1:p.Gln1206His
XM_017027706.1:c.3549G>T XP_016883195.1:p.Gln1183His
NM_015338.6:c.3702G>T MANE Select NP_056153.2:p.Gln1234His