Canonical Allele Identifier: CA9808342

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32433581G>A , CM000682.2:g.32433581G>A	GRCh38
NC_000020.10:g.31021384G>A , CM000682.1:g.31021384G>A	GRCh37
NC_000020.9:g.30485045G>A	NCBI36
NG_027868.1:g.80238G>A , LRG_630:g.80238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1383G>A MANE Select	ENSP00000364839.4:p.Leu461=
ENST00000644168.1:n.925G>A
ENST00000646985.1:c.1200G>A	ENSP00000495053.1:p.Leu400=
ENST00000647223.1:n.3222G>A
ENST00000651418.1:c.1383G>A	ENSP00000499150.1:p.Leu461=
ENST00000306058.9:c.1368G>A	ENSP00000305119.5:p.Leu456=
ENST00000375687.8:c.1383G>A	ENSP00000364839.4:p.Leu461=
ENST00000613218.4:c.1383G>A	ENSP00000480487.1:p.Leu461=
ENST00000620121.4:c.1383G>A	ENSP00000481978.1:p.Leu461=
NM_015338.5:c.1383G>A , LRG_630t1:c.1383G>A	NP_056153.2:p.Leu461=
XM_006723727.2:c.1380G>A	XP_006723790.1:p.Leu460=
XM_006723728.2:c.1353G>A	XP_006723791.1:p.Leu451=
XM_006723730.2:c.1299G>A	XP_006723793.1:p.Leu433=
XM_006723732.2:c.1200G>A	XP_006723795.1:p.Leu400=
XM_006723733.1:c.699G>A	XP_006723796.1:p.Leu233=
XM_011528647.1:c.1647G>A	XP_011526949.1:p.Leu549=
XM_011528648.1:c.1644G>A	XP_011526950.1:p.Leu548=
XM_011528649.1:c.1563G>A	XP_011526951.1:p.Leu521=
XM_011528650.1:c.1494G>A	XP_011526952.1:p.Leu498=
XM_011528651.1:c.1362G>A	XP_011526953.1:p.Leu454=
XM_011528652.1:c.1299G>A	XP_011526954.1:p.Leu433=
NM_001363734.1:c.1200G>A	NP_001350663.1:p.Leu400=
XM_006723727.3:c.1380G>A	XP_006723790.1:p.Leu460=
XM_006723728.3:c.1353G>A	XP_006723791.1:p.Leu451=
XM_006723730.4:c.1299G>A	XP_006723793.1:p.Leu433=
XM_011528648.3:c.1644G>A	XP_011526950.1:p.Leu548=
XM_011528652.2:c.1299G>A	XP_011526954.1:p.Leu433=
XM_017027704.1:c.1299G>A	XP_016883193.1:p.Leu433=
XM_017027705.1:c.1299G>A	XP_016883194.1:p.Leu433=
XM_017027706.1:c.1230G>A	XP_016883195.1:p.Leu410=
NM_015338.6:c.1383G>A MANE Select	NP_056153.2:p.Leu461=