Canonical Allele Identifier: CA9808824

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 762937
• ClinVar RCV Id: RCV000941128
• dbSNP Id: rs780868413
• ExAC: 20:31023953 G / A
• gnomAD v2: 20-31023953-G-A
• gnomAD v3: 20-32436150-G-A
• gnomAD v4: 20-32436150-G-A
• MyVariant Identifiers: chr20:g.31023953G>A (hg19) ; chr20:g.32436150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436150G>A , CM000682.2:g.32436150G>A	GRCh38
NC_000020.10:g.31023953G>A , CM000682.1:g.31023953G>A	GRCh37
NC_000020.9:g.30487614G>A	NCBI36
NG_027868.1:g.82807G>A , LRG_630:g.82807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3438G>A MANE Select	ENSP00000364839.4:p.Ser1146=
ENST00000646985.1:c.3255G>A	ENSP00000495053.1:p.Ser1085=
ENST00000647223.1:n.5791G>A
ENST00000651418.1:c.1869+1569G>A	ENSP00000499150.1:n.1869+1569G>A
ENST00000306058.9:c.3423G>A	ENSP00000305119.5:p.Ser1141=
ENST00000375687.8:c.3438G>A	ENSP00000364839.4:p.Ser1146=
ENST00000613218.4:c.3438G>A	ENSP00000480487.1:p.Ser1146=
ENST00000620121.4:c.3438G>A	ENSP00000481978.1:p.Ser1146=
NM_015338.5:c.3438G>A , LRG_630t1:c.3438G>A	NP_056153.2:p.Ser1146=
XM_006723727.2:c.3435G>A	XP_006723790.1:p.Ser1145=
XM_006723728.2:c.3408G>A	XP_006723791.1:p.Ser1136=
XM_006723730.2:c.3354G>A	XP_006723793.1:p.Ser1118=
XM_006723732.2:c.3255G>A	XP_006723795.1:p.Ser1085=
XM_006723733.1:c.2754G>A	XP_006723796.1:p.Ser918=
XM_011528647.1:c.3702G>A	XP_011526949.1:p.Ser1234=
XM_011528648.1:c.3699G>A	XP_011526950.1:p.Ser1233=
XM_011528649.1:c.3618G>A	XP_011526951.1:p.Ser1206=
XM_011528650.1:c.3549G>A	XP_011526952.1:p.Ser1183=
XM_011528651.1:c.3417G>A	XP_011526953.1:p.Ser1139=
XM_011528652.1:c.3354G>A	XP_011526954.1:p.Ser1118=
NM_001363734.1:c.3255G>A	NP_001350663.1:p.Ser1085=
XM_006723727.3:c.3435G>A	XP_006723790.1:p.Ser1145=
XM_006723728.3:c.3408G>A	XP_006723791.1:p.Ser1136=
XM_006723730.4:c.3354G>A	XP_006723793.1:p.Ser1118=
XM_011528648.3:c.3699G>A	XP_011526950.1:p.Ser1233=
XM_011528652.2:c.3354G>A	XP_011526954.1:p.Ser1118=
XM_017027704.1:c.3354G>A	XP_016883193.1:p.Ser1118=
XM_017027705.1:c.3354G>A	XP_016883194.1:p.Ser1118=
XM_017027706.1:c.3285G>A	XP_016883195.1:p.Ser1095=
NM_015338.6:c.3438G>A MANE Select	NP_056153.2:p.Ser1146=