Canonical Allele Identifier: CA9808956

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2312238
• ClinVar RCV Id: RCV002884536
• dbSNP Id: rs751971997
• ExAC: 20:31024579 A / G
• gnomAD v2: 20-31024579-A-G
• gnomAD v4: 20-32436776-A-G
• MyVariant Identifiers: chr20:g.31024579A>G (hg19) ; chr20:g.32436776A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436776A>G , CM000682.2:g.32436776A>G	GRCh38
NC_000020.10:g.31024579A>G , CM000682.1:g.31024579A>G	GRCh37
NC_000020.9:g.30488240A>G	NCBI36
NG_027868.1:g.83433A>G , LRG_630:g.83433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4064A>G MANE Select	ENSP00000364839.4:p.Asp1355Gly
ENST00000646985.1:c.3881A>G	ENSP00000495053.1:p.Asp1294Gly
ENST00000647223.1:n.6417A>G
ENST00000651418.1:c.1870-1654A>G	ENSP00000499150.1:n.1870-1654A>G
ENST00000306058.9:c.4049A>G	ENSP00000305119.5:p.Asp1350Gly
ENST00000375687.8:c.4064A>G	ENSP00000364839.4:p.Asp1355Gly
ENST00000613218.4:c.4064A>G	ENSP00000480487.1:p.Asp1355Gly
ENST00000620121.4:c.4064A>G	ENSP00000481978.1:p.Asp1355Gly
NM_015338.5:c.4064A>G , LRG_630t1:c.4064A>G	NP_056153.2:p.Asp1355Gly
XM_006723727.2:c.4061A>G	XP_006723790.1:p.Asp1354Gly
XM_006723728.2:c.4034A>G	XP_006723791.1:p.Asp1345Gly
XM_006723730.2:c.3980A>G	XP_006723793.1:p.Asp1327Gly
XM_006723732.2:c.3881A>G	XP_006723795.1:p.Asp1294Gly
XM_006723733.1:c.3380A>G	XP_006723796.1:p.Asp1127Gly
XM_011528647.1:c.4328A>G	XP_011526949.1:p.Asp1443Gly
XM_011528648.1:c.4325A>G	XP_011526950.1:p.Asp1442Gly
XM_011528649.1:c.4244A>G	XP_011526951.1:p.Asp1415Gly
XM_011528650.1:c.4175A>G	XP_011526952.1:p.Asp1392Gly
XM_011528651.1:c.4043A>G	XP_011526953.1:p.Asp1348Gly
XM_011528652.1:c.3980A>G	XP_011526954.1:p.Asp1327Gly
NM_001363734.1:c.3881A>G	NP_001350663.1:p.Asp1294Gly
XM_006723727.3:c.4061A>G	XP_006723790.1:p.Asp1354Gly
XM_006723728.3:c.4034A>G	XP_006723791.1:p.Asp1345Gly
XM_006723730.4:c.3980A>G	XP_006723793.1:p.Asp1327Gly
XM_011528648.3:c.4325A>G	XP_011526950.1:p.Asp1442Gly
XM_011528652.2:c.3980A>G	XP_011526954.1:p.Asp1327Gly
XM_017027704.1:c.3980A>G	XP_016883193.1:p.Asp1327Gly
XM_017027705.1:c.3980A>G	XP_016883194.1:p.Asp1327Gly
XM_017027706.1:c.3911A>G	XP_016883195.1:p.Asp1304Gly
NM_015338.6:c.4064A>G MANE Select	NP_056153.2:p.Asp1355Gly