Canonical Allele Identifier: CA9808821

Gene: ASXL1

Linked Data

• dbSNP Id: rs777670355
• ExAC: 20:31023949 G / A
• gnomAD v2: 20-31023949-G-A
• gnomAD v3: 20-32436146-G-A
• gnomAD v4: 20-32436146-G-A
• MyVariant Identifiers: chr20:g.31023949G>A (hg19) ; chr20:g.32436146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436146G>A , CM000682.2:g.32436146G>A	GRCh38
NC_000020.10:g.31023949G>A , CM000682.1:g.31023949G>A	GRCh37
NC_000020.9:g.30487610G>A	NCBI36
NG_027868.1:g.82803G>A , LRG_630:g.82803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3434G>A MANE Select	ENSP00000364839.4:p.Gly1145Asp
ENST00000646985.1:c.3251G>A	ENSP00000495053.1:p.Gly1084Asp
ENST00000647223.1:n.5787G>A
ENST00000651418.1:c.1869+1565G>A	ENSP00000499150.1:n.1869+1565G>A
ENST00000306058.9:c.3419G>A	ENSP00000305119.5:p.Gly1140Asp
ENST00000375687.8:c.3434G>A	ENSP00000364839.4:p.Gly1145Asp
ENST00000613218.4:c.3434G>A	ENSP00000480487.1:p.Gly1145Asp
ENST00000620121.4:c.3434G>A	ENSP00000481978.1:p.Gly1145Asp
NM_015338.5:c.3434G>A , LRG_630t1:c.3434G>A	NP_056153.2:p.Gly1145Asp
XM_006723727.2:c.3431G>A	XP_006723790.1:p.Gly1144Asp
XM_006723728.2:c.3404G>A	XP_006723791.1:p.Gly1135Asp
XM_006723730.2:c.3350G>A	XP_006723793.1:p.Gly1117Asp
XM_006723732.2:c.3251G>A	XP_006723795.1:p.Gly1084Asp
XM_006723733.1:c.2750G>A	XP_006723796.1:p.Gly917Asp
XM_011528647.1:c.3698G>A	XP_011526949.1:p.Gly1233Asp
XM_011528648.1:c.3695G>A	XP_011526950.1:p.Gly1232Asp
XM_011528649.1:c.3614G>A	XP_011526951.1:p.Gly1205Asp
XM_011528650.1:c.3545G>A	XP_011526952.1:p.Gly1182Asp
XM_011528651.1:c.3413G>A	XP_011526953.1:p.Gly1138Asp
XM_011528652.1:c.3350G>A	XP_011526954.1:p.Gly1117Asp
NM_001363734.1:c.3251G>A	NP_001350663.1:p.Gly1084Asp
XM_006723727.3:c.3431G>A	XP_006723790.1:p.Gly1144Asp
XM_006723728.3:c.3404G>A	XP_006723791.1:p.Gly1135Asp
XM_006723730.4:c.3350G>A	XP_006723793.1:p.Gly1117Asp
XM_011528648.3:c.3695G>A	XP_011526950.1:p.Gly1232Asp
XM_011528652.2:c.3350G>A	XP_011526954.1:p.Gly1117Asp
XM_017027704.1:c.3350G>A	XP_016883193.1:p.Gly1117Asp
XM_017027705.1:c.3350G>A	XP_016883194.1:p.Gly1117Asp
XM_017027706.1:c.3281G>A	XP_016883195.1:p.Gly1094Asp
NM_015338.6:c.3434G>A MANE Select	NP_056153.2:p.Gly1145Asp