Canonical Allele Identifier: CA9808955

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2793671
• ClinVar RCV Id: RCV003670399
• dbSNP Id: rs764491073
• ExAC: 20:31024564 A / G
• gnomAD v2: 20-31024564-A-G
• gnomAD v4: 20-32436761-A-G
• MyVariant Identifiers: chr20:g.31024564A>G (hg19) ; chr20:g.32436761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436761A>G , CM000682.2:g.32436761A>G	GRCh38
NC_000020.10:g.31024564A>G , CM000682.1:g.31024564A>G	GRCh37
NC_000020.9:g.30488225A>G	NCBI36
NG_027868.1:g.83418A>G , LRG_630:g.83418A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4049A>G MANE Select	ENSP00000364839.4:p.Gln1350Arg
ENST00000646985.1:c.3866A>G	ENSP00000495053.1:p.Gln1289Arg
ENST00000647223.1:n.6402A>G
ENST00000651418.1:c.1870-1669A>G	ENSP00000499150.1:n.1870-1669A>G
ENST00000306058.9:c.4034A>G	ENSP00000305119.5:p.Gln1345Arg
ENST00000375687.8:c.4049A>G	ENSP00000364839.4:p.Gln1350Arg
ENST00000613218.4:c.4049A>G	ENSP00000480487.1:p.Gln1350Arg
ENST00000620121.4:c.4049A>G	ENSP00000481978.1:p.Gln1350Arg
NM_015338.5:c.4049A>G , LRG_630t1:c.4049A>G	NP_056153.2:p.Gln1350Arg
XM_006723727.2:c.4046A>G	XP_006723790.1:p.Gln1349Arg
XM_006723728.2:c.4019A>G	XP_006723791.1:p.Gln1340Arg
XM_006723730.2:c.3965A>G	XP_006723793.1:p.Gln1322Arg
XM_006723732.2:c.3866A>G	XP_006723795.1:p.Gln1289Arg
XM_006723733.1:c.3365A>G	XP_006723796.1:p.Gln1122Arg
XM_011528647.1:c.4313A>G	XP_011526949.1:p.Gln1438Arg
XM_011528648.1:c.4310A>G	XP_011526950.1:p.Gln1437Arg
XM_011528649.1:c.4229A>G	XP_011526951.1:p.Gln1410Arg
XM_011528650.1:c.4160A>G	XP_011526952.1:p.Gln1387Arg
XM_011528651.1:c.4028A>G	XP_011526953.1:p.Gln1343Arg
XM_011528652.1:c.3965A>G	XP_011526954.1:p.Gln1322Arg
NM_001363734.1:c.3866A>G	NP_001350663.1:p.Gln1289Arg
XM_006723727.3:c.4046A>G	XP_006723790.1:p.Gln1349Arg
XM_006723728.3:c.4019A>G	XP_006723791.1:p.Gln1340Arg
XM_006723730.4:c.3965A>G	XP_006723793.1:p.Gln1322Arg
XM_011528648.3:c.4310A>G	XP_011526950.1:p.Gln1437Arg
XM_011528652.2:c.3965A>G	XP_011526954.1:p.Gln1322Arg
XM_017027704.1:c.3965A>G	XP_016883193.1:p.Gln1322Arg
XM_017027705.1:c.3965A>G	XP_016883194.1:p.Gln1322Arg
XM_017027706.1:c.3896A>G	XP_016883195.1:p.Gln1299Arg
NM_015338.6:c.4049A>G MANE Select	NP_056153.2:p.Gln1350Arg