Canonical Allele Identifier: CA408557457

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32433789G>A , CM000682.2:g.32433789G>A	GRCh38
NC_000020.10:g.31021592G>A , CM000682.1:g.31021592G>A	GRCh37
NC_000020.9:g.30485253G>A	NCBI36
NG_027868.1:g.80446G>A , LRG_630:g.80446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1591G>A MANE Select	ENSP00000364839.4:p.Ala531Thr
ENST00000644168.1:n.1133G>A
ENST00000646985.1:c.1408G>A	ENSP00000495053.1:p.Ala470Thr
ENST00000647223.1:n.3430G>A
ENST00000651418.1:c.1591G>A	ENSP00000499150.1:p.Ala531Thr
ENST00000306058.9:c.1576G>A	ENSP00000305119.5:p.Ala526Thr
ENST00000375687.8:c.1591G>A	ENSP00000364839.4:p.Ala531Thr
ENST00000613218.4:c.1591G>A	ENSP00000480487.1:p.Ala531Thr
ENST00000620121.4:c.1591G>A	ENSP00000481978.1:p.Ala531Thr
NM_015338.5:c.1591G>A , LRG_630t1:c.1591G>A	NP_056153.2:p.Ala531Thr
XM_006723727.2:c.1588G>A	XP_006723790.1:p.Ala530Thr
XM_006723728.2:c.1561G>A	XP_006723791.1:p.Ala521Thr
XM_006723730.2:c.1507G>A	XP_006723793.1:p.Ala503Thr
XM_006723732.2:c.1408G>A	XP_006723795.1:p.Ala470Thr
XM_006723733.1:c.907G>A	XP_006723796.1:p.Ala303Thr
XM_011528647.1:c.1855G>A	XP_011526949.1:p.Ala619Thr
XM_011528648.1:c.1852G>A	XP_011526950.1:p.Ala618Thr
XM_011528649.1:c.1771G>A	XP_011526951.1:p.Ala591Thr
XM_011528650.1:c.1702G>A	XP_011526952.1:p.Ala568Thr
XM_011528651.1:c.1570G>A	XP_011526953.1:p.Ala524Thr
XM_011528652.1:c.1507G>A	XP_011526954.1:p.Ala503Thr
NM_001363734.1:c.1408G>A	NP_001350663.1:p.Ala470Thr
XM_006723727.3:c.1588G>A	XP_006723790.1:p.Ala530Thr
XM_006723728.3:c.1561G>A	XP_006723791.1:p.Ala521Thr
XM_006723730.4:c.1507G>A	XP_006723793.1:p.Ala503Thr
XM_011528648.3:c.1852G>A	XP_011526950.1:p.Ala618Thr
XM_011528652.2:c.1507G>A	XP_011526954.1:p.Ala503Thr
XM_017027704.1:c.1507G>A	XP_016883193.1:p.Ala503Thr
XM_017027705.1:c.1507G>A	XP_016883194.1:p.Ala503Thr
XM_017027706.1:c.1438G>A	XP_016883195.1:p.Ala480Thr
NM_015338.6:c.1591G>A MANE Select	NP_056153.2:p.Ala531Thr