Canonical Allele Identifier: CA408562598

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011826695
• gnomAD v3: 20-32435932-C-G
• gnomAD v4: 20-32435932-C-G
• MyVariant Identifiers: chr20:g.31023735C>G (hg19) ; chr20:g.32435932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435932C>G , CM000682.2:g.32435932C>G	GRCh38
NC_000020.10:g.31023735C>G , CM000682.1:g.31023735C>G	GRCh37
NC_000020.9:g.30487396C>G	NCBI36
NG_027868.1:g.82589C>G , LRG_630:g.82589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3220C>G MANE Select	ENSP00000364839.4:p.Gln1074Glu
ENST00000646985.1:c.3037C>G	ENSP00000495053.1:p.Gln1013Glu
ENST00000647223.1:n.5573C>G
ENST00000651418.1:c.1869+1351C>G	ENSP00000499150.1:n.1869+1351C>G
ENST00000306058.9:c.3205C>G	ENSP00000305119.5:p.Gln1069Glu
ENST00000375687.8:c.3220C>G	ENSP00000364839.4:p.Gln1074Glu
ENST00000613218.4:c.3220C>G	ENSP00000480487.1:p.Gln1074Glu
ENST00000620121.4:c.3220C>G	ENSP00000481978.1:p.Gln1074Glu
NM_015338.5:c.3220C>G , LRG_630t1:c.3220C>G	NP_056153.2:p.Gln1074Glu
XM_006723727.2:c.3217C>G	XP_006723790.1:p.Gln1073Glu
XM_006723728.2:c.3190C>G	XP_006723791.1:p.Gln1064Glu
XM_006723730.2:c.3136C>G	XP_006723793.1:p.Gln1046Glu
XM_006723732.2:c.3037C>G	XP_006723795.1:p.Gln1013Glu
XM_006723733.1:c.2536C>G	XP_006723796.1:p.Gln846Glu
XM_011528647.1:c.3484C>G	XP_011526949.1:p.Gln1162Glu
XM_011528648.1:c.3481C>G	XP_011526950.1:p.Gln1161Glu
XM_011528649.1:c.3400C>G	XP_011526951.1:p.Gln1134Glu
XM_011528650.1:c.3331C>G	XP_011526952.1:p.Gln1111Glu
XM_011528651.1:c.3199C>G	XP_011526953.1:p.Gln1067Glu
XM_011528652.1:c.3136C>G	XP_011526954.1:p.Gln1046Glu
NM_001363734.1:c.3037C>G	NP_001350663.1:p.Gln1013Glu
XM_006723727.3:c.3217C>G	XP_006723790.1:p.Gln1073Glu
XM_006723728.3:c.3190C>G	XP_006723791.1:p.Gln1064Glu
XM_006723730.4:c.3136C>G	XP_006723793.1:p.Gln1046Glu
XM_011528648.3:c.3481C>G	XP_011526950.1:p.Gln1161Glu
XM_011528652.2:c.3136C>G	XP_011526954.1:p.Gln1046Glu
XM_017027704.1:c.3136C>G	XP_016883193.1:p.Gln1046Glu
XM_017027705.1:c.3136C>G	XP_016883194.1:p.Gln1046Glu
XM_017027706.1:c.3067C>G	XP_016883195.1:p.Gln1023Glu
NM_015338.6:c.3220C>G MANE Select	NP_056153.2:p.Gln1074Glu