Canonical Allele Identifier: CA9808164

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 433179
• ClinVar RCV Id: RCV000498145 ; RCV000503508
• dbSNP Id: rs780662350
• ExAC: 20:31017802 G / A
• gnomAD v2: 20-31017802-G-A
• gnomAD v3: 20-32429999-G-A
• gnomAD v4: 20-32429999-G-A
• COSMIC: COSM1238246
• MyVariant Identifiers: chr20:g.31017802G>A (hg19) ; chr20:g.32429999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32429999G>A , CM000682.2:g.32429999G>A	GRCh38
NC_000020.10:g.31017802G>A , CM000682.1:g.31017802G>A	GRCh37
NC_000020.9:g.30481463G>A	NCBI36
NG_027868.1:g.76656G>A , LRG_630:g.76656G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.664G>A MANE Select	ENSP00000364839.4:p.Glu222Lys
ENST00000555564.2:n.118G>A
ENST00000646985.1:c.535+568G>A	ENSP00000495053.1:n.535+568G>A
ENST00000647223.1:n.1236G>A
ENST00000651418.1:c.664G>A	ENSP00000499150.1:p.Glu222Lys
ENST00000306058.9:c.649G>A	ENSP00000305119.5:p.Glu217Lys
ENST00000375687.8:c.664G>A	ENSP00000364839.4:p.Glu222Lys
ENST00000613218.4:c.664G>A	ENSP00000480487.1:p.Glu222Lys
ENST00000619344.4:n.260G>A
ENST00000620121.4:c.664G>A	ENSP00000481978.1:p.Glu222Lys
NM_015338.5:c.664G>A , LRG_630t1:c.664G>A	NP_056153.2:p.Glu222Lys
XM_006723727.2:c.661G>A	XP_006723790.1:p.Glu221Lys
XM_006723728.2:c.634G>A	XP_006723791.1:p.Glu212Lys
XM_006723730.2:c.580G>A	XP_006723793.1:p.Glu194Lys
XM_006723732.2:c.535+568G>A	XP_006723795.1:n.535+568G>A
XM_011528647.1:c.928G>A	XP_011526949.1:p.Glu310Lys
XM_011528648.1:c.925G>A	XP_011526950.1:p.Glu309Lys
XM_011528649.1:c.844G>A	XP_011526951.1:p.Glu282Lys
XM_011528650.1:c.829+568G>A	XP_011526952.1:n.829+568G>A
XM_011528651.1:c.643G>A	XP_011526953.1:p.Glu215Lys
XM_011528652.1:c.580G>A	XP_011526954.1:p.Glu194Lys
NM_001363734.1:c.535+568G>A	NP_001350663.1:n.535+568G>A
XM_006723727.3:c.661G>A	XP_006723790.1:p.Glu221Lys
XM_006723728.3:c.634G>A	XP_006723791.1:p.Glu212Lys
XM_006723730.4:c.580G>A	XP_006723793.1:p.Glu194Lys
XM_011528648.3:c.925G>A	XP_011526950.1:p.Glu309Lys
XM_011528652.2:c.580G>A	XP_011526954.1:p.Glu194Lys
XM_017027704.1:c.580G>A	XP_016883193.1:p.Glu194Lys
XM_017027705.1:c.580G>A	XP_016883194.1:p.Glu194Lys
XM_017027706.1:c.565+568G>A	XP_016883195.1:n.565+568G>A
NM_015338.6:c.664G>A MANE Select	NP_056153.2:p.Glu222Lys