Canonical Allele Identifier: CA408562711

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1985398
• ClinVar RCV Id: RCV002800520
• dbSNP Id: rs2011830516
• gnomAD v4: 20-32435983-G-A
• MyVariant Identifiers: chr20:g.31023786G>A (hg19) ; chr20:g.32435983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435983G>A , CM000682.2:g.32435983G>A	GRCh38
NC_000020.10:g.31023786G>A , CM000682.1:g.31023786G>A	GRCh37
NC_000020.9:g.30487447G>A	NCBI36
NG_027868.1:g.82640G>A , LRG_630:g.82640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3271G>A MANE Select	ENSP00000364839.4:p.Ala1091Thr
ENST00000646985.1:c.3088G>A	ENSP00000495053.1:p.Ala1030Thr
ENST00000647223.1:n.5624G>A
ENST00000651418.1:c.1869+1402G>A	ENSP00000499150.1:n.1869+1402G>A
ENST00000306058.9:c.3256G>A	ENSP00000305119.5:p.Ala1086Thr
ENST00000375687.8:c.3271G>A	ENSP00000364839.4:p.Ala1091Thr
ENST00000613218.4:c.3271G>A	ENSP00000480487.1:p.Ala1091Thr
ENST00000620121.4:c.3271G>A	ENSP00000481978.1:p.Ala1091Thr
NM_015338.5:c.3271G>A , LRG_630t1:c.3271G>A	NP_056153.2:p.Ala1091Thr
XM_006723727.2:c.3268G>A	XP_006723790.1:p.Ala1090Thr
XM_006723728.2:c.3241G>A	XP_006723791.1:p.Ala1081Thr
XM_006723730.2:c.3187G>A	XP_006723793.1:p.Ala1063Thr
XM_006723732.2:c.3088G>A	XP_006723795.1:p.Ala1030Thr
XM_006723733.1:c.2587G>A	XP_006723796.1:p.Ala863Thr
XM_011528647.1:c.3535G>A	XP_011526949.1:p.Ala1179Thr
XM_011528648.1:c.3532G>A	XP_011526950.1:p.Ala1178Thr
XM_011528649.1:c.3451G>A	XP_011526951.1:p.Ala1151Thr
XM_011528650.1:c.3382G>A	XP_011526952.1:p.Ala1128Thr
XM_011528651.1:c.3250G>A	XP_011526953.1:p.Ala1084Thr
XM_011528652.1:c.3187G>A	XP_011526954.1:p.Ala1063Thr
NM_001363734.1:c.3088G>A	NP_001350663.1:p.Ala1030Thr
XM_006723727.3:c.3268G>A	XP_006723790.1:p.Ala1090Thr
XM_006723728.3:c.3241G>A	XP_006723791.1:p.Ala1081Thr
XM_006723730.4:c.3187G>A	XP_006723793.1:p.Ala1063Thr
XM_011528648.3:c.3532G>A	XP_011526950.1:p.Ala1178Thr
XM_011528652.2:c.3187G>A	XP_011526954.1:p.Ala1063Thr
XM_017027704.1:c.3187G>A	XP_016883193.1:p.Ala1063Thr
XM_017027705.1:c.3187G>A	XP_016883194.1:p.Ala1063Thr
XM_017027706.1:c.3118G>A	XP_016883195.1:p.Ala1040Thr
NM_015338.6:c.3271G>A MANE Select	NP_056153.2:p.Ala1091Thr