Canonical Allele Identifier: CA9808964

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1335459
• ClinVar RCV Id: RCV001816304
• dbSNP Id: rs147456014
• ExAC: 20:31024614 G / A
• gnomAD v2: 20-31024614-G-A
• gnomAD v3: 20-32436811-G-A
• gnomAD v4: 20-32436811-G-A
• COSMIC: COSM723114
• MyVariant Identifiers: chr20:g.31024614G>A (hg19) ; chr20:g.32436811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436811G>A , CM000682.2:g.32436811G>A	GRCh38
NC_000020.10:g.31024614G>A , CM000682.1:g.31024614G>A	GRCh37
NC_000020.9:g.30488275G>A	NCBI36
NG_027868.1:g.83468G>A , LRG_630:g.83468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4099G>A MANE Select	ENSP00000364839.4:p.Val1367Ile
ENST00000646985.1:c.3916G>A	ENSP00000495053.1:p.Val1306Ile
ENST00000647223.1:n.6452G>A
ENST00000651418.1:c.1870-1619G>A	ENSP00000499150.1:n.1870-1619G>A
ENST00000306058.9:c.4084G>A	ENSP00000305119.5:p.Val1362Ile
ENST00000375687.8:c.4099G>A	ENSP00000364839.4:p.Val1367Ile
ENST00000613218.4:c.4099G>A	ENSP00000480487.1:p.Val1367Ile
ENST00000620121.4:c.4099G>A	ENSP00000481978.1:p.Val1367Ile
NM_015338.5:c.4099G>A , LRG_630t1:c.4099G>A	NP_056153.2:p.Val1367Ile
XM_006723727.2:c.4096G>A	XP_006723790.1:p.Val1366Ile
XM_006723728.2:c.4069G>A	XP_006723791.1:p.Val1357Ile
XM_006723730.2:c.4015G>A	XP_006723793.1:p.Val1339Ile
XM_006723732.2:c.3916G>A	XP_006723795.1:p.Val1306Ile
XM_006723733.1:c.3415G>A	XP_006723796.1:p.Val1139Ile
XM_011528647.1:c.4363G>A	XP_011526949.1:p.Val1455Ile
XM_011528648.1:c.4360G>A	XP_011526950.1:p.Val1454Ile
XM_011528649.1:c.4279G>A	XP_011526951.1:p.Val1427Ile
XM_011528650.1:c.4210G>A	XP_011526952.1:p.Val1404Ile
XM_011528651.1:c.4078G>A	XP_011526953.1:p.Val1360Ile
XM_011528652.1:c.4015G>A	XP_011526954.1:p.Val1339Ile
NM_001363734.1:c.3916G>A	NP_001350663.1:p.Val1306Ile
XM_006723727.3:c.4096G>A	XP_006723790.1:p.Val1366Ile
XM_006723728.3:c.4069G>A	XP_006723791.1:p.Val1357Ile
XM_006723730.4:c.4015G>A	XP_006723793.1:p.Val1339Ile
XM_011528648.3:c.4360G>A	XP_011526950.1:p.Val1454Ile
XM_011528652.2:c.4015G>A	XP_011526954.1:p.Val1339Ile
XM_017027704.1:c.4015G>A	XP_016883193.1:p.Val1339Ile
XM_017027705.1:c.4015G>A	XP_016883194.1:p.Val1339Ile
XM_017027706.1:c.3946G>A	XP_016883195.1:p.Val1316Ile
NM_015338.6:c.4099G>A MANE Select	NP_056153.2:p.Val1367Ile