Canonical Allele Identifier: CA408564099

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2077446
• ClinVar RCV Id: RCV002976500
• MyVariant Identifiers: chr20:g.31024447C>T (hg19) ; chr20:g.32436644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436644C>T , CM000682.2:g.32436644C>T	GRCh38
NC_000020.10:g.31024447C>T , CM000682.1:g.31024447C>T	GRCh37
NC_000020.9:g.30488108C>T	NCBI36
NG_027868.1:g.83301C>T , LRG_630:g.83301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3932C>T MANE Select	ENSP00000364839.4:p.Ala1311Val
ENST00000646985.1:c.3749C>T	ENSP00000495053.1:p.Ala1250Val
ENST00000647223.1:n.6285C>T
ENST00000651418.1:c.1870-1786C>T	ENSP00000499150.1:n.1870-1786C>T
ENST00000306058.9:c.3917C>T	ENSP00000305119.5:p.Ala1306Val
ENST00000375687.8:c.3932C>T	ENSP00000364839.4:p.Ala1311Val
ENST00000613218.4:c.3932C>T	ENSP00000480487.1:p.Ala1311Val
ENST00000620121.4:c.3932C>T	ENSP00000481978.1:p.Ala1311Val
NM_015338.5:c.3932C>T , LRG_630t1:c.3932C>T	NP_056153.2:p.Ala1311Val
XM_006723727.2:c.3929C>T	XP_006723790.1:p.Ala1310Val
XM_006723728.2:c.3902C>T	XP_006723791.1:p.Ala1301Val
XM_006723730.2:c.3848C>T	XP_006723793.1:p.Ala1283Val
XM_006723732.2:c.3749C>T	XP_006723795.1:p.Ala1250Val
XM_006723733.1:c.3248C>T	XP_006723796.1:p.Ala1083Val
XM_011528647.1:c.4196C>T	XP_011526949.1:p.Ala1399Val
XM_011528648.1:c.4193C>T	XP_011526950.1:p.Ala1398Val
XM_011528649.1:c.4112C>T	XP_011526951.1:p.Ala1371Val
XM_011528650.1:c.4043C>T	XP_011526952.1:p.Ala1348Val
XM_011528651.1:c.3911C>T	XP_011526953.1:p.Ala1304Val
XM_011528652.1:c.3848C>T	XP_011526954.1:p.Ala1283Val
NM_001363734.1:c.3749C>T	NP_001350663.1:p.Ala1250Val
XM_006723727.3:c.3929C>T	XP_006723790.1:p.Ala1310Val
XM_006723728.3:c.3902C>T	XP_006723791.1:p.Ala1301Val
XM_006723730.4:c.3848C>T	XP_006723793.1:p.Ala1283Val
XM_011528648.3:c.4193C>T	XP_011526950.1:p.Ala1398Val
XM_011528652.2:c.3848C>T	XP_011526954.1:p.Ala1283Val
XM_017027704.1:c.3848C>T	XP_016883193.1:p.Ala1283Val
XM_017027705.1:c.3848C>T	XP_016883194.1:p.Ala1283Val
XM_017027706.1:c.3779C>T	XP_016883195.1:p.Ala1260Val
NM_015338.6:c.3932C>T MANE Select	NP_056153.2:p.Ala1311Val