Canonical Allele Identifier: CA408564405

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011928118
• gnomAD v4: 20-32436796-G-A
• MyVariant Identifiers: chr20:g.31024599G>A (hg19) ; chr20:g.32436796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436796G>A , CM000682.2:g.32436796G>A	GRCh38
NC_000020.10:g.31024599G>A , CM000682.1:g.31024599G>A	GRCh37
NC_000020.9:g.30488260G>A	NCBI36
NG_027868.1:g.83453G>A , LRG_630:g.83453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4084G>A MANE Select	ENSP00000364839.4:p.Ala1362Thr
ENST00000646985.1:c.3901G>A	ENSP00000495053.1:p.Ala1301Thr
ENST00000647223.1:n.6437G>A
ENST00000651418.1:c.1870-1634G>A	ENSP00000499150.1:n.1870-1634G>A
ENST00000306058.9:c.4069G>A	ENSP00000305119.5:p.Ala1357Thr
ENST00000375687.8:c.4084G>A	ENSP00000364839.4:p.Ala1362Thr
ENST00000613218.4:c.4084G>A	ENSP00000480487.1:p.Ala1362Thr
ENST00000620121.4:c.4084G>A	ENSP00000481978.1:p.Ala1362Thr
NM_015338.5:c.4084G>A , LRG_630t1:c.4084G>A	NP_056153.2:p.Ala1362Thr
XM_006723727.2:c.4081G>A	XP_006723790.1:p.Ala1361Thr
XM_006723728.2:c.4054G>A	XP_006723791.1:p.Ala1352Thr
XM_006723730.2:c.4000G>A	XP_006723793.1:p.Ala1334Thr
XM_006723732.2:c.3901G>A	XP_006723795.1:p.Ala1301Thr
XM_006723733.1:c.3400G>A	XP_006723796.1:p.Ala1134Thr
XM_011528647.1:c.4348G>A	XP_011526949.1:p.Ala1450Thr
XM_011528648.1:c.4345G>A	XP_011526950.1:p.Ala1449Thr
XM_011528649.1:c.4264G>A	XP_011526951.1:p.Ala1422Thr
XM_011528650.1:c.4195G>A	XP_011526952.1:p.Ala1399Thr
XM_011528651.1:c.4063G>A	XP_011526953.1:p.Ala1355Thr
XM_011528652.1:c.4000G>A	XP_011526954.1:p.Ala1334Thr
NM_001363734.1:c.3901G>A	NP_001350663.1:p.Ala1301Thr
XM_006723727.3:c.4081G>A	XP_006723790.1:p.Ala1361Thr
XM_006723728.3:c.4054G>A	XP_006723791.1:p.Ala1352Thr
XM_006723730.4:c.4000G>A	XP_006723793.1:p.Ala1334Thr
XM_011528648.3:c.4345G>A	XP_011526950.1:p.Ala1449Thr
XM_011528652.2:c.4000G>A	XP_011526954.1:p.Ala1334Thr
XM_017027704.1:c.4000G>A	XP_016883193.1:p.Ala1334Thr
XM_017027705.1:c.4000G>A	XP_016883194.1:p.Ala1334Thr
XM_017027706.1:c.3931G>A	XP_016883195.1:p.Ala1311Thr
NM_015338.6:c.4084G>A MANE Select	NP_056153.2:p.Ala1362Thr