Canonical Allele Identifier: CA408564125

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1030495
• ClinVar RCV Id: RCV001332062
• dbSNP Id: rs773951405
• gnomAD v4: 20-32436658-C-G
• MyVariant Identifiers: chr20:g.31024461C>G (hg19) ; chr20:g.32436658C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436658C>G , CM000682.2:g.32436658C>G	GRCh38
NC_000020.10:g.31024461C>G , CM000682.1:g.31024461C>G	GRCh37
NC_000020.9:g.30488122C>G	NCBI36
NG_027868.1:g.83315C>G , LRG_630:g.83315C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3946C>G MANE Select	ENSP00000364839.4:p.Arg1316Gly
ENST00000646985.1:c.3763C>G	ENSP00000495053.1:p.Arg1255Gly
ENST00000647223.1:n.6299C>G
ENST00000651418.1:c.1870-1772C>G	ENSP00000499150.1:n.1870-1772C>G
ENST00000306058.9:c.3931C>G	ENSP00000305119.5:p.Arg1311Gly
ENST00000375687.8:c.3946C>G	ENSP00000364839.4:p.Arg1316Gly
ENST00000613218.4:c.3946C>G	ENSP00000480487.1:p.Arg1316Gly
ENST00000620121.4:c.3946C>G	ENSP00000481978.1:p.Arg1316Gly
NM_015338.5:c.3946C>G , LRG_630t1:c.3946C>G	NP_056153.2:p.Arg1316Gly
XM_006723727.2:c.3943C>G	XP_006723790.1:p.Arg1315Gly
XM_006723728.2:c.3916C>G	XP_006723791.1:p.Arg1306Gly
XM_006723730.2:c.3862C>G	XP_006723793.1:p.Arg1288Gly
XM_006723732.2:c.3763C>G	XP_006723795.1:p.Arg1255Gly
XM_006723733.1:c.3262C>G	XP_006723796.1:p.Arg1088Gly
XM_011528647.1:c.4210C>G	XP_011526949.1:p.Arg1404Gly
XM_011528648.1:c.4207C>G	XP_011526950.1:p.Arg1403Gly
XM_011528649.1:c.4126C>G	XP_011526951.1:p.Arg1376Gly
XM_011528650.1:c.4057C>G	XP_011526952.1:p.Arg1353Gly
XM_011528651.1:c.3925C>G	XP_011526953.1:p.Arg1309Gly
XM_011528652.1:c.3862C>G	XP_011526954.1:p.Arg1288Gly
NM_001363734.1:c.3763C>G	NP_001350663.1:p.Arg1255Gly
XM_006723727.3:c.3943C>G	XP_006723790.1:p.Arg1315Gly
XM_006723728.3:c.3916C>G	XP_006723791.1:p.Arg1306Gly
XM_006723730.4:c.3862C>G	XP_006723793.1:p.Arg1288Gly
XM_011528648.3:c.4207C>G	XP_011526950.1:p.Arg1403Gly
XM_011528652.2:c.3862C>G	XP_011526954.1:p.Arg1288Gly
XM_017027704.1:c.3862C>G	XP_016883193.1:p.Arg1288Gly
XM_017027705.1:c.3862C>G	XP_016883194.1:p.Arg1288Gly
XM_017027706.1:c.3793C>G	XP_016883195.1:p.Arg1265Gly
NM_015338.6:c.3946C>G MANE Select	NP_056153.2:p.Arg1316Gly