Canonical Allele Identifier: CA408562596

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2874774
• ClinVar RCV Id: RCV003714705
• dbSNP Id: rs1444168328
• gnomAD v3: 20-32435930-G-T
• gnomAD v4: 20-32435930-G-T
• COSMIC: COSM4397819 ; COSM4397820
• MyVariant Identifiers: chr20:g.31023733G>T (hg19) ; chr20:g.32435930G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435930G>T , CM000682.2:g.32435930G>T	GRCh38
NC_000020.10:g.31023733G>T , CM000682.1:g.31023733G>T	GRCh37
NC_000020.9:g.30487394G>T	NCBI36
NG_027868.1:g.82587G>T , LRG_630:g.82587G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3218G>T MANE Select	ENSP00000364839.4:p.Arg1073Leu
ENST00000646985.1:c.3035G>T	ENSP00000495053.1:p.Arg1012Leu
ENST00000647223.1:n.5571G>T
ENST00000651418.1:c.1869+1349G>T	ENSP00000499150.1:n.1869+1349G>T
ENST00000306058.9:c.3203G>T	ENSP00000305119.5:p.Arg1068Leu
ENST00000375687.8:c.3218G>T	ENSP00000364839.4:p.Arg1073Leu
ENST00000613218.4:c.3218G>T	ENSP00000480487.1:p.Arg1073Leu
ENST00000620121.4:c.3218G>T	ENSP00000481978.1:p.Arg1073Leu
NM_015338.5:c.3218G>T , LRG_630t1:c.3218G>T	NP_056153.2:p.Arg1073Leu
XM_006723727.2:c.3215G>T	XP_006723790.1:p.Arg1072Leu
XM_006723728.2:c.3188G>T	XP_006723791.1:p.Arg1063Leu
XM_006723730.2:c.3134G>T	XP_006723793.1:p.Arg1045Leu
XM_006723732.2:c.3035G>T	XP_006723795.1:p.Arg1012Leu
XM_006723733.1:c.2534G>T	XP_006723796.1:p.Arg845Leu
XM_011528647.1:c.3482G>T	XP_011526949.1:p.Arg1161Leu
XM_011528648.1:c.3479G>T	XP_011526950.1:p.Arg1160Leu
XM_011528649.1:c.3398G>T	XP_011526951.1:p.Arg1133Leu
XM_011528650.1:c.3329G>T	XP_011526952.1:p.Arg1110Leu
XM_011528651.1:c.3197G>T	XP_011526953.1:p.Arg1066Leu
XM_011528652.1:c.3134G>T	XP_011526954.1:p.Arg1045Leu
NM_001363734.1:c.3035G>T	NP_001350663.1:p.Arg1012Leu
XM_006723727.3:c.3215G>T	XP_006723790.1:p.Arg1072Leu
XM_006723728.3:c.3188G>T	XP_006723791.1:p.Arg1063Leu
XM_006723730.4:c.3134G>T	XP_006723793.1:p.Arg1045Leu
XM_011528648.3:c.3479G>T	XP_011526950.1:p.Arg1160Leu
XM_011528652.2:c.3134G>T	XP_011526954.1:p.Arg1045Leu
XM_017027704.1:c.3134G>T	XP_016883193.1:p.Arg1045Leu
XM_017027705.1:c.3134G>T	XP_016883194.1:p.Arg1045Leu
XM_017027706.1:c.3065G>T	XP_016883195.1:p.Arg1022Leu
NM_015338.6:c.3218G>T MANE Select	NP_056153.2:p.Arg1073Leu