Canonical Allele Identifier: CA408563430

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011870459
• MyVariant Identifiers: chr20:g.31024129A>G (hg19) ; chr20:g.32436326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436326A>G , CM000682.2:g.32436326A>G	GRCh38
NC_000020.10:g.31024129A>G , CM000682.1:g.31024129A>G	GRCh37
NC_000020.9:g.30487790A>G	NCBI36
NG_027868.1:g.82983A>G , LRG_630:g.82983A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3614A>G MANE Select	ENSP00000364839.4:p.Lys1205Arg
ENST00000646985.1:c.3431A>G	ENSP00000495053.1:p.Lys1144Arg
ENST00000647223.1:n.5967A>G
ENST00000651418.1:c.1869+1745A>G	ENSP00000499150.1:n.1869+1745A>G
ENST00000306058.9:c.3599A>G	ENSP00000305119.5:p.Lys1200Arg
ENST00000375687.8:c.3614A>G	ENSP00000364839.4:p.Lys1205Arg
ENST00000613218.4:c.3614A>G	ENSP00000480487.1:p.Lys1205Arg
ENST00000620121.4:c.3614A>G	ENSP00000481978.1:p.Lys1205Arg
NM_015338.5:c.3614A>G , LRG_630t1:c.3614A>G	NP_056153.2:p.Lys1205Arg
XM_006723727.2:c.3611A>G	XP_006723790.1:p.Lys1204Arg
XM_006723728.2:c.3584A>G	XP_006723791.1:p.Lys1195Arg
XM_006723730.2:c.3530A>G	XP_006723793.1:p.Lys1177Arg
XM_006723732.2:c.3431A>G	XP_006723795.1:p.Lys1144Arg
XM_006723733.1:c.2930A>G	XP_006723796.1:p.Lys977Arg
XM_011528647.1:c.3878A>G	XP_011526949.1:p.Lys1293Arg
XM_011528648.1:c.3875A>G	XP_011526950.1:p.Lys1292Arg
XM_011528649.1:c.3794A>G	XP_011526951.1:p.Lys1265Arg
XM_011528650.1:c.3725A>G	XP_011526952.1:p.Lys1242Arg
XM_011528651.1:c.3593A>G	XP_011526953.1:p.Lys1198Arg
XM_011528652.1:c.3530A>G	XP_011526954.1:p.Lys1177Arg
NM_001363734.1:c.3431A>G	NP_001350663.1:p.Lys1144Arg
XM_006723727.3:c.3611A>G	XP_006723790.1:p.Lys1204Arg
XM_006723728.3:c.3584A>G	XP_006723791.1:p.Lys1195Arg
XM_006723730.4:c.3530A>G	XP_006723793.1:p.Lys1177Arg
XM_011528648.3:c.3875A>G	XP_011526950.1:p.Lys1292Arg
XM_011528652.2:c.3530A>G	XP_011526954.1:p.Lys1177Arg
XM_017027704.1:c.3530A>G	XP_016883193.1:p.Lys1177Arg
XM_017027705.1:c.3530A>G	XP_016883194.1:p.Lys1177Arg
XM_017027706.1:c.3461A>G	XP_016883195.1:p.Lys1154Arg
NM_015338.6:c.3614A>G MANE Select	NP_056153.2:p.Lys1205Arg