Canonical Allele Identifier: CA9808912

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1902197
• ClinVar RCV Id: RCV002580101
• dbSNP Id: rs762720533
• ExAC: 20:31024333 G / A
• gnomAD v2: 20-31024333-G-A
• gnomAD v3: 20-32436530-G-A
• gnomAD v4: 20-32436530-G-A
• COSMIC: COSM1025736
• MyVariant Identifiers: chr20:g.31024333G>A (hg19) ; chr20:g.32436530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436530G>A , CM000682.2:g.32436530G>A	GRCh38
NC_000020.10:g.31024333G>A , CM000682.1:g.31024333G>A	GRCh37
NC_000020.9:g.30487994G>A	NCBI36
NG_027868.1:g.83187G>A , LRG_630:g.83187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3818G>A MANE Select	ENSP00000364839.4:p.Arg1273His
ENST00000646985.1:c.3635G>A	ENSP00000495053.1:p.Arg1212His
ENST00000647223.1:n.6171G>A
ENST00000651418.1:c.1870-1900G>A	ENSP00000499150.1:n.1870-1900G>A
ENST00000306058.9:c.3803G>A	ENSP00000305119.5:p.Arg1268His
ENST00000375687.8:c.3818G>A	ENSP00000364839.4:p.Arg1273His
ENST00000613218.4:c.3818G>A	ENSP00000480487.1:p.Arg1273His
ENST00000620121.4:c.3818G>A	ENSP00000481978.1:p.Arg1273His
NM_015338.5:c.3818G>A , LRG_630t1:c.3818G>A	NP_056153.2:p.Arg1273His
XM_006723727.2:c.3815G>A	XP_006723790.1:p.Arg1272His
XM_006723728.2:c.3788G>A	XP_006723791.1:p.Arg1263His
XM_006723730.2:c.3734G>A	XP_006723793.1:p.Arg1245His
XM_006723732.2:c.3635G>A	XP_006723795.1:p.Arg1212His
XM_006723733.1:c.3134G>A	XP_006723796.1:p.Arg1045His
XM_011528647.1:c.4082G>A	XP_011526949.1:p.Arg1361His
XM_011528648.1:c.4079G>A	XP_011526950.1:p.Arg1360His
XM_011528649.1:c.3998G>A	XP_011526951.1:p.Arg1333His
XM_011528650.1:c.3929G>A	XP_011526952.1:p.Arg1310His
XM_011528651.1:c.3797G>A	XP_011526953.1:p.Arg1266His
XM_011528652.1:c.3734G>A	XP_011526954.1:p.Arg1245His
NM_001363734.1:c.3635G>A	NP_001350663.1:p.Arg1212His
XM_006723727.3:c.3815G>A	XP_006723790.1:p.Arg1272His
XM_006723728.3:c.3788G>A	XP_006723791.1:p.Arg1263His
XM_006723730.4:c.3734G>A	XP_006723793.1:p.Arg1245His
XM_011528648.3:c.4079G>A	XP_011526950.1:p.Arg1360His
XM_011528652.2:c.3734G>A	XP_011526954.1:p.Arg1245His
XM_017027704.1:c.3734G>A	XP_016883193.1:p.Arg1245His
XM_017027705.1:c.3734G>A	XP_016883194.1:p.Arg1245His
XM_017027706.1:c.3665G>A	XP_016883195.1:p.Arg1222His
NM_015338.6:c.3818G>A MANE Select	NP_056153.2:p.Arg1273His