Canonical Allele Identifier: CA408562704

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2973389
• ClinVar RCV Id: RCV003830483
• dbSNP Id: rs2011830292
• gnomAD v3: 20-32435980-A-G
• gnomAD v4: 20-32435980-A-G
• MyVariant Identifiers: chr20:g.31023783A>G (hg19) ; chr20:g.32435980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435980A>G , CM000682.2:g.32435980A>G	GRCh38
NC_000020.10:g.31023783A>G , CM000682.1:g.31023783A>G	GRCh37
NC_000020.9:g.30487444A>G	NCBI36
NG_027868.1:g.82637A>G , LRG_630:g.82637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3268A>G MANE Select	ENSP00000364839.4:p.Arg1090Gly
ENST00000646985.1:c.3085A>G	ENSP00000495053.1:p.Arg1029Gly
ENST00000647223.1:n.5621A>G
ENST00000651418.1:c.1869+1399A>G	ENSP00000499150.1:n.1869+1399A>G
ENST00000306058.9:c.3253A>G	ENSP00000305119.5:p.Arg1085Gly
ENST00000375687.8:c.3268A>G	ENSP00000364839.4:p.Arg1090Gly
ENST00000613218.4:c.3268A>G	ENSP00000480487.1:p.Arg1090Gly
ENST00000620121.4:c.3268A>G	ENSP00000481978.1:p.Arg1090Gly
NM_015338.5:c.3268A>G , LRG_630t1:c.3268A>G	NP_056153.2:p.Arg1090Gly
XM_006723727.2:c.3265A>G	XP_006723790.1:p.Arg1089Gly
XM_006723728.2:c.3238A>G	XP_006723791.1:p.Arg1080Gly
XM_006723730.2:c.3184A>G	XP_006723793.1:p.Arg1062Gly
XM_006723732.2:c.3085A>G	XP_006723795.1:p.Arg1029Gly
XM_006723733.1:c.2584A>G	XP_006723796.1:p.Arg862Gly
XM_011528647.1:c.3532A>G	XP_011526949.1:p.Arg1178Gly
XM_011528648.1:c.3529A>G	XP_011526950.1:p.Arg1177Gly
XM_011528649.1:c.3448A>G	XP_011526951.1:p.Arg1150Gly
XM_011528650.1:c.3379A>G	XP_011526952.1:p.Arg1127Gly
XM_011528651.1:c.3247A>G	XP_011526953.1:p.Arg1083Gly
XM_011528652.1:c.3184A>G	XP_011526954.1:p.Arg1062Gly
NM_001363734.1:c.3085A>G	NP_001350663.1:p.Arg1029Gly
XM_006723727.3:c.3265A>G	XP_006723790.1:p.Arg1089Gly
XM_006723728.3:c.3238A>G	XP_006723791.1:p.Arg1080Gly
XM_006723730.4:c.3184A>G	XP_006723793.1:p.Arg1062Gly
XM_011528648.3:c.3529A>G	XP_011526950.1:p.Arg1177Gly
XM_011528652.2:c.3184A>G	XP_011526954.1:p.Arg1062Gly
XM_017027704.1:c.3184A>G	XP_016883193.1:p.Arg1062Gly
XM_017027705.1:c.3184A>G	XP_016883194.1:p.Arg1062Gly
XM_017027706.1:c.3115A>G	XP_016883195.1:p.Arg1039Gly
NM_015338.6:c.3268A>G MANE Select	NP_056153.2:p.Arg1090Gly