Canonical Allele Identifier: CA510467257

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2109401
• ClinVar RCV Id: RCV003031837
• MyVariant Identifiers: chr20:g.31023965A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436162A>T , CM000682.2:g.32436162A>T	GRCh38
NC_000020.10:g.31023965A>T , CM000682.1:g.31023965A>T	GRCh37
NC_000020.9:g.30487626A>T	NCBI36
NG_027868.1:g.82819A>T , LRG_630:g.82819A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3450A>T MANE Select	ENSP00000364839.4:p.Gly1150=
ENST00000646985.1:c.3267A>T	ENSP00000495053.1:p.Gly1089=
ENST00000647223.1:n.5803A>T
ENST00000651418.1:c.1869+1581A>T	ENSP00000499150.1:n.1869+1581A>T
ENST00000306058.9:c.3435A>T	ENSP00000305119.5:p.Gly1145=
ENST00000375687.8:c.3450A>T	ENSP00000364839.4:p.Gly1150=
ENST00000613218.4:c.3450A>T	ENSP00000480487.1:p.Gly1150=
ENST00000620121.4:c.3450A>T	ENSP00000481978.1:p.Gly1150=
NM_015338.5:c.3450A>T , LRG_630t1:c.3450A>T	NP_056153.2:p.Gly1150=
XM_006723727.2:c.3447A>T	XP_006723790.1:p.Gly1149=
XM_006723728.2:c.3420A>T	XP_006723791.1:p.Gly1140=
XM_006723730.2:c.3366A>T	XP_006723793.1:p.Gly1122=
XM_006723732.2:c.3267A>T	XP_006723795.1:p.Gly1089=
XM_006723733.1:c.2766A>T	XP_006723796.1:p.Gly922=
XM_011528647.1:c.3714A>T	XP_011526949.1:p.Gly1238=
XM_011528648.1:c.3711A>T	XP_011526950.1:p.Gly1237=
XM_011528649.1:c.3630A>T	XP_011526951.1:p.Gly1210=
XM_011528650.1:c.3561A>T	XP_011526952.1:p.Gly1187=
XM_011528651.1:c.3429A>T	XP_011526953.1:p.Gly1143=
XM_011528652.1:c.3366A>T	XP_011526954.1:p.Gly1122=
NM_001363734.1:c.3267A>T	NP_001350663.1:p.Gly1089=
XM_006723727.3:c.3447A>T	XP_006723790.1:p.Gly1149=
XM_006723728.3:c.3420A>T	XP_006723791.1:p.Gly1140=
XM_006723730.4:c.3366A>T	XP_006723793.1:p.Gly1122=
XM_011528648.3:c.3711A>T	XP_011526950.1:p.Gly1237=
XM_011528652.2:c.3366A>T	XP_011526954.1:p.Gly1122=
XM_017027704.1:c.3366A>T	XP_016883193.1:p.Gly1122=
XM_017027705.1:c.3366A>T	XP_016883194.1:p.Gly1122=
XM_017027706.1:c.3297A>T	XP_016883195.1:p.Gly1099=
NM_015338.6:c.3450A>T MANE Select	NP_056153.2:p.Gly1150=