Canonical Allele Identifier: CA408562597

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023735C>A (hg19) ; chr20:g.32435932C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3220C>A MANE Select	ENSP00000364839.4:p.Gln1074Lys
ENST00000646985.1:c.3037C>A	ENSP00000495053.1:p.Gln1013Lys
ENST00000647223.1:n.5573C>A
ENST00000651418.1:c.1869+1351C>A	ENSP00000499150.1:n.1869+1351C>A
ENST00000306058.9:c.3205C>A	ENSP00000305119.5:p.Gln1069Lys
ENST00000375687.8:c.3220C>A	ENSP00000364839.4:p.Gln1074Lys
ENST00000613218.4:c.3220C>A	ENSP00000480487.1:p.Gln1074Lys
ENST00000620121.4:c.3220C>A	ENSP00000481978.1:p.Gln1074Lys
NM_015338.5:c.3220C>A , LRG_630t1:c.3220C>A	NP_056153.2:p.Gln1074Lys
XM_006723727.2:c.3217C>A	XP_006723790.1:p.Gln1073Lys
XM_006723728.2:c.3190C>A	XP_006723791.1:p.Gln1064Lys
XM_006723730.2:c.3136C>A	XP_006723793.1:p.Gln1046Lys
XM_006723732.2:c.3037C>A	XP_006723795.1:p.Gln1013Lys
XM_006723733.1:c.2536C>A	XP_006723796.1:p.Gln846Lys
XM_011528647.1:c.3484C>A	XP_011526949.1:p.Gln1162Lys
XM_011528648.1:c.3481C>A	XP_011526950.1:p.Gln1161Lys
XM_011528649.1:c.3400C>A	XP_011526951.1:p.Gln1134Lys
XM_011528650.1:c.3331C>A	XP_011526952.1:p.Gln1111Lys
XM_011528651.1:c.3199C>A	XP_011526953.1:p.Gln1067Lys
XM_011528652.1:c.3136C>A	XP_011526954.1:p.Gln1046Lys
NM_001363734.1:c.3037C>A	NP_001350663.1:p.Gln1013Lys
XM_006723727.3:c.3217C>A	XP_006723790.1:p.Gln1073Lys
XM_006723728.3:c.3190C>A	XP_006723791.1:p.Gln1064Lys
XM_006723730.4:c.3136C>A	XP_006723793.1:p.Gln1046Lys
XM_011528648.3:c.3481C>A	XP_011526950.1:p.Gln1161Lys
XM_011528652.2:c.3136C>A	XP_011526954.1:p.Gln1046Lys
XM_017027704.1:c.3136C>A	XP_016883193.1:p.Gln1046Lys
XM_017027705.1:c.3136C>A	XP_016883194.1:p.Gln1046Lys
XM_017027706.1:c.3067C>A	XP_016883195.1:p.Gln1023Lys
NM_015338.6:c.3220C>A MANE Select	NP_056153.2:p.Gln1074Lys