Canonical Allele Identifier: CA408563037

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 982935
• ClinVar RCV Id: RCV001262671
• dbSNP Id: rs2011847101
• MyVariant Identifiers: chr20:g.31023940A>G (hg19) ; chr20:g.32436137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436137A>G , CM000682.2:g.32436137A>G	GRCh38
NC_000020.10:g.31023940A>G , CM000682.1:g.31023940A>G	GRCh37
NC_000020.9:g.30487601A>G	NCBI36
NG_027868.1:g.82794A>G , LRG_630:g.82794A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3425A>G MANE Select	ENSP00000364839.4:p.Gln1142Arg
ENST00000646985.1:c.3242A>G	ENSP00000495053.1:p.Gln1081Arg
ENST00000647223.1:n.5778A>G
ENST00000651418.1:c.1869+1556A>G	ENSP00000499150.1:n.1869+1556A>G
ENST00000306058.9:c.3410A>G	ENSP00000305119.5:p.Gln1137Arg
ENST00000375687.8:c.3425A>G	ENSP00000364839.4:p.Gln1142Arg
ENST00000613218.4:c.3425A>G	ENSP00000480487.1:p.Gln1142Arg
ENST00000620121.4:c.3425A>G	ENSP00000481978.1:p.Gln1142Arg
NM_015338.5:c.3425A>G , LRG_630t1:c.3425A>G	NP_056153.2:p.Gln1142Arg
XM_006723727.2:c.3422A>G	XP_006723790.1:p.Gln1141Arg
XM_006723728.2:c.3395A>G	XP_006723791.1:p.Gln1132Arg
XM_006723730.2:c.3341A>G	XP_006723793.1:p.Gln1114Arg
XM_006723732.2:c.3242A>G	XP_006723795.1:p.Gln1081Arg
XM_006723733.1:c.2741A>G	XP_006723796.1:p.Gln914Arg
XM_011528647.1:c.3689A>G	XP_011526949.1:p.Gln1230Arg
XM_011528648.1:c.3686A>G	XP_011526950.1:p.Gln1229Arg
XM_011528649.1:c.3605A>G	XP_011526951.1:p.Gln1202Arg
XM_011528650.1:c.3536A>G	XP_011526952.1:p.Gln1179Arg
XM_011528651.1:c.3404A>G	XP_011526953.1:p.Gln1135Arg
XM_011528652.1:c.3341A>G	XP_011526954.1:p.Gln1114Arg
NM_001363734.1:c.3242A>G	NP_001350663.1:p.Gln1081Arg
XM_006723727.3:c.3422A>G	XP_006723790.1:p.Gln1141Arg
XM_006723728.3:c.3395A>G	XP_006723791.1:p.Gln1132Arg
XM_006723730.4:c.3341A>G	XP_006723793.1:p.Gln1114Arg
XM_011528648.3:c.3686A>G	XP_011526950.1:p.Gln1229Arg
XM_011528652.2:c.3341A>G	XP_011526954.1:p.Gln1114Arg
XM_017027704.1:c.3341A>G	XP_016883193.1:p.Gln1114Arg
XM_017027705.1:c.3341A>G	XP_016883194.1:p.Gln1114Arg
XM_017027706.1:c.3272A>G	XP_016883195.1:p.Gln1091Arg
NM_015338.6:c.3425A>G MANE Select	NP_056153.2:p.Gln1142Arg