Canonical Allele Identifier: CA9808775

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1998937
• ClinVar RCV Id: RCV002815030
• dbSNP Id: rs752058283
• ExAC: 20:31023718 G / A
• gnomAD v2: 20-31023718-G-A
• gnomAD v3: 20-32435915-G-A
• gnomAD v4: 20-32435915-G-A
• MyVariant Identifiers: chr20:g.31023718G>A (hg19) ; chr20:g.32435915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435915G>A , CM000682.2:g.32435915G>A	GRCh38
NC_000020.10:g.31023718G>A , CM000682.1:g.31023718G>A	GRCh37
NC_000020.9:g.30487379G>A	NCBI36
NG_027868.1:g.82572G>A , LRG_630:g.82572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3203G>A MANE Select	ENSP00000364839.4:p.Arg1068Gln
ENST00000646985.1:c.3020G>A	ENSP00000495053.1:p.Arg1007Gln
ENST00000647223.1:n.5556G>A
ENST00000651418.1:c.1869+1334G>A	ENSP00000499150.1:n.1869+1334G>A
ENST00000306058.9:c.3188G>A	ENSP00000305119.5:p.Arg1063Gln
ENST00000375687.8:c.3203G>A	ENSP00000364839.4:p.Arg1068Gln
ENST00000613218.4:c.3203G>A	ENSP00000480487.1:p.Arg1068Gln
ENST00000620121.4:c.3203G>A	ENSP00000481978.1:p.Arg1068Gln
NM_015338.5:c.3203G>A , LRG_630t1:c.3203G>A	NP_056153.2:p.Arg1068Gln
XM_006723727.2:c.3200G>A	XP_006723790.1:p.Arg1067Gln
XM_006723728.2:c.3173G>A	XP_006723791.1:p.Arg1058Gln
XM_006723730.2:c.3119G>A	XP_006723793.1:p.Arg1040Gln
XM_006723732.2:c.3020G>A	XP_006723795.1:p.Arg1007Gln
XM_006723733.1:c.2519G>A	XP_006723796.1:p.Arg840Gln
XM_011528647.1:c.3467G>A	XP_011526949.1:p.Arg1156Gln
XM_011528648.1:c.3464G>A	XP_011526950.1:p.Arg1155Gln
XM_011528649.1:c.3383G>A	XP_011526951.1:p.Arg1128Gln
XM_011528650.1:c.3314G>A	XP_011526952.1:p.Arg1105Gln
XM_011528651.1:c.3182G>A	XP_011526953.1:p.Arg1061Gln
XM_011528652.1:c.3119G>A	XP_011526954.1:p.Arg1040Gln
NM_001363734.1:c.3020G>A	NP_001350663.1:p.Arg1007Gln
XM_006723727.3:c.3200G>A	XP_006723790.1:p.Arg1067Gln
XM_006723728.3:c.3173G>A	XP_006723791.1:p.Arg1058Gln
XM_006723730.4:c.3119G>A	XP_006723793.1:p.Arg1040Gln
XM_011528648.3:c.3464G>A	XP_011526950.1:p.Arg1155Gln
XM_011528652.2:c.3119G>A	XP_011526954.1:p.Arg1040Gln
XM_017027704.1:c.3119G>A	XP_016883193.1:p.Arg1040Gln
XM_017027705.1:c.3119G>A	XP_016883194.1:p.Arg1040Gln
XM_017027706.1:c.3050G>A	XP_016883195.1:p.Arg1017Gln
NM_015338.6:c.3203G>A MANE Select	NP_056153.2:p.Arg1068Gln