Canonical Allele Identifier: CA408563674

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024242C>A (hg19) ; chr20:g.32436439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436439C>A , CM000682.2:g.32436439C>A	GRCh38
NC_000020.10:g.31024242C>A , CM000682.1:g.31024242C>A	GRCh37
NC_000020.9:g.30487903C>A	NCBI36
NG_027868.1:g.83096C>A , LRG_630:g.83096C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3727C>A MANE Select	ENSP00000364839.4:p.Gln1243Lys
ENST00000646985.1:c.3544C>A	ENSP00000495053.1:p.Gln1182Lys
ENST00000647223.1:n.6080C>A
ENST00000651418.1:c.1869+1858C>A	ENSP00000499150.1:n.1869+1858C>A
ENST00000306058.9:c.3712C>A	ENSP00000305119.5:p.Gln1238Lys
ENST00000375687.8:c.3727C>A	ENSP00000364839.4:p.Gln1243Lys
ENST00000613218.4:c.3727C>A	ENSP00000480487.1:p.Gln1243Lys
ENST00000620121.4:c.3727C>A	ENSP00000481978.1:p.Gln1243Lys
NM_015338.5:c.3727C>A , LRG_630t1:c.3727C>A	NP_056153.2:p.Gln1243Lys
XM_006723727.2:c.3724C>A	XP_006723790.1:p.Gln1242Lys
XM_006723728.2:c.3697C>A	XP_006723791.1:p.Gln1233Lys
XM_006723730.2:c.3643C>A	XP_006723793.1:p.Gln1215Lys
XM_006723732.2:c.3544C>A	XP_006723795.1:p.Gln1182Lys
XM_006723733.1:c.3043C>A	XP_006723796.1:p.Gln1015Lys
XM_011528647.1:c.3991C>A	XP_011526949.1:p.Gln1331Lys
XM_011528648.1:c.3988C>A	XP_011526950.1:p.Gln1330Lys
XM_011528649.1:c.3907C>A	XP_011526951.1:p.Gln1303Lys
XM_011528650.1:c.3838C>A	XP_011526952.1:p.Gln1280Lys
XM_011528651.1:c.3706C>A	XP_011526953.1:p.Gln1236Lys
XM_011528652.1:c.3643C>A	XP_011526954.1:p.Gln1215Lys
NM_001363734.1:c.3544C>A	NP_001350663.1:p.Gln1182Lys
XM_006723727.3:c.3724C>A	XP_006723790.1:p.Gln1242Lys
XM_006723728.3:c.3697C>A	XP_006723791.1:p.Gln1233Lys
XM_006723730.4:c.3643C>A	XP_006723793.1:p.Gln1215Lys
XM_011528648.3:c.3988C>A	XP_011526950.1:p.Gln1330Lys
XM_011528652.2:c.3643C>A	XP_011526954.1:p.Gln1215Lys
XM_017027704.1:c.3643C>A	XP_016883193.1:p.Gln1215Lys
XM_017027705.1:c.3643C>A	XP_016883194.1:p.Gln1215Lys
XM_017027706.1:c.3574C>A	XP_016883195.1:p.Gln1192Lys
NM_015338.6:c.3727C>A MANE Select	NP_056153.2:p.Gln1243Lys