Canonical Allele Identifier: CA510467523

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436666-G-A
• MyVariant Identifiers: chr20:g.31024469G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436666G>A , CM000682.2:g.32436666G>A	GRCh38
NC_000020.10:g.31024469G>A , CM000682.1:g.31024469G>A	GRCh37
NC_000020.9:g.30488130G>A	NCBI36
NG_027868.1:g.83323G>A , LRG_630:g.83323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3954G>A MANE Select	ENSP00000364839.4:p.Arg1318=
ENST00000646985.1:c.3771G>A	ENSP00000495053.1:p.Arg1257=
ENST00000647223.1:n.6307G>A
ENST00000651418.1:c.1870-1764G>A	ENSP00000499150.1:n.1870-1764G>A
ENST00000306058.9:c.3939G>A	ENSP00000305119.5:p.Arg1313=
ENST00000375687.8:c.3954G>A	ENSP00000364839.4:p.Arg1318=
ENST00000613218.4:c.3954G>A	ENSP00000480487.1:p.Arg1318=
ENST00000620121.4:c.3954G>A	ENSP00000481978.1:p.Arg1318=
NM_015338.5:c.3954G>A , LRG_630t1:c.3954G>A	NP_056153.2:p.Arg1318=
XM_006723727.2:c.3951G>A	XP_006723790.1:p.Arg1317=
XM_006723728.2:c.3924G>A	XP_006723791.1:p.Arg1308=
XM_006723730.2:c.3870G>A	XP_006723793.1:p.Arg1290=
XM_006723732.2:c.3771G>A	XP_006723795.1:p.Arg1257=
XM_006723733.1:c.3270G>A	XP_006723796.1:p.Arg1090=
XM_011528647.1:c.4218G>A	XP_011526949.1:p.Arg1406=
XM_011528648.1:c.4215G>A	XP_011526950.1:p.Arg1405=
XM_011528649.1:c.4134G>A	XP_011526951.1:p.Arg1378=
XM_011528650.1:c.4065G>A	XP_011526952.1:p.Arg1355=
XM_011528651.1:c.3933G>A	XP_011526953.1:p.Arg1311=
XM_011528652.1:c.3870G>A	XP_011526954.1:p.Arg1290=
NM_001363734.1:c.3771G>A	NP_001350663.1:p.Arg1257=
XM_006723727.3:c.3951G>A	XP_006723790.1:p.Arg1317=
XM_006723728.3:c.3924G>A	XP_006723791.1:p.Arg1308=
XM_006723730.4:c.3870G>A	XP_006723793.1:p.Arg1290=
XM_011528648.3:c.4215G>A	XP_011526950.1:p.Arg1405=
XM_011528652.2:c.3870G>A	XP_011526954.1:p.Arg1290=
XM_017027704.1:c.3870G>A	XP_016883193.1:p.Arg1290=
XM_017027705.1:c.3870G>A	XP_016883194.1:p.Arg1290=
XM_017027706.1:c.3801G>A	XP_016883195.1:p.Arg1267=
NM_015338.6:c.3954G>A MANE Select	NP_056153.2:p.Arg1318=