Canonical Allele Identifier: CA9808934

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1260346
• ClinVar RCV Id: RCV001659624 ; RCV002260285 ; RCV002538589
• dbSNP Id: rs141930107
• ExAC: 20:31024480 C / G
• gnomAD v2: 20-31024480-C-G
• gnomAD v3: 20-32436677-C-G
• gnomAD v4: 20-32436677-C-G
• COSMIC: COSM36204
• MyVariant Identifiers: chr20:g.31024480C>G (hg19) ; chr20:g.31024480_31024482delinsGGA (hg19) ; chr20:g.32436677C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436677C>G , CM000682.2:g.32436677C>G	GRCh38
NC_000020.10:g.31024480C>G , CM000682.1:g.31024480C>G	GRCh37
NC_000020.9:g.30488141C>G	NCBI36
NG_027868.1:g.83334C>G , LRG_630:g.83334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3965C>G MANE Select	ENSP00000364839.4:p.Pro1322Arg
ENST00000646985.1:c.3782C>G	ENSP00000495053.1:p.Pro1261Arg
ENST00000647223.1:n.6318C>G
ENST00000651418.1:c.1870-1753C>G	ENSP00000499150.1:n.1870-1753C>G
ENST00000306058.9:c.3950C>G	ENSP00000305119.5:p.Pro1317Arg
ENST00000375687.8:c.3965C>G	ENSP00000364839.4:p.Pro1322Arg
ENST00000613218.4:c.3965C>G	ENSP00000480487.1:p.Pro1322Arg
ENST00000620121.4:c.3965C>G	ENSP00000481978.1:p.Pro1322Arg
NM_015338.5:c.3965C>G , LRG_630t1:c.3965C>G	NP_056153.2:p.Pro1322Arg
XM_006723727.2:c.3962C>G	XP_006723790.1:p.Pro1321Arg
XM_006723728.2:c.3935C>G	XP_006723791.1:p.Pro1312Arg
XM_006723730.2:c.3881C>G	XP_006723793.1:p.Pro1294Arg
XM_006723732.2:c.3782C>G	XP_006723795.1:p.Pro1261Arg
XM_006723733.1:c.3281C>G	XP_006723796.1:p.Pro1094Arg
XM_011528647.1:c.4229C>G	XP_011526949.1:p.Pro1410Arg
XM_011528648.1:c.4226C>G	XP_011526950.1:p.Pro1409Arg
XM_011528649.1:c.4145C>G	XP_011526951.1:p.Pro1382Arg
XM_011528650.1:c.4076C>G	XP_011526952.1:p.Pro1359Arg
XM_011528651.1:c.3944C>G	XP_011526953.1:p.Pro1315Arg
XM_011528652.1:c.3881C>G	XP_011526954.1:p.Pro1294Arg
NM_001363734.1:c.3782C>G	NP_001350663.1:p.Pro1261Arg
XM_006723727.3:c.3962C>G	XP_006723790.1:p.Pro1321Arg
XM_006723728.3:c.3935C>G	XP_006723791.1:p.Pro1312Arg
XM_006723730.4:c.3881C>G	XP_006723793.1:p.Pro1294Arg
XM_011528648.3:c.4226C>G	XP_011526950.1:p.Pro1409Arg
XM_011528652.2:c.3881C>G	XP_011526954.1:p.Pro1294Arg
XM_017027704.1:c.3881C>G	XP_016883193.1:p.Pro1294Arg
XM_017027705.1:c.3881C>G	XP_016883194.1:p.Pro1294Arg
XM_017027706.1:c.3812C>G	XP_016883195.1:p.Pro1271Arg
NM_015338.6:c.3965C>G MANE Select	NP_056153.2:p.Pro1322Arg