Canonical Allele Identifier: CA408563928

Gene: ASXL1

Linked Data

• COSMIC: COSM4640266 ; COSM4640267
• MyVariant Identifiers: chr20:g.31024366C>G (hg19) ; chr20:g.32436563C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436563C>G , CM000682.2:g.32436563C>G	GRCh38
NC_000020.10:g.31024366C>G , CM000682.1:g.31024366C>G	GRCh37
NC_000020.9:g.30488027C>G	NCBI36
NG_027868.1:g.83220C>G , LRG_630:g.83220C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3851C>G MANE Select	ENSP00000364839.4:p.Pro1284Arg
ENST00000646985.1:c.3668C>G	ENSP00000495053.1:p.Pro1223Arg
ENST00000647223.1:n.6204C>G
ENST00000651418.1:c.1870-1867C>G	ENSP00000499150.1:n.1870-1867C>G
ENST00000306058.9:c.3836C>G	ENSP00000305119.5:p.Pro1279Arg
ENST00000375687.8:c.3851C>G	ENSP00000364839.4:p.Pro1284Arg
ENST00000613218.4:c.3851C>G	ENSP00000480487.1:p.Pro1284Arg
ENST00000620121.4:c.3851C>G	ENSP00000481978.1:p.Pro1284Arg
NM_015338.5:c.3851C>G , LRG_630t1:c.3851C>G	NP_056153.2:p.Pro1284Arg
XM_006723727.2:c.3848C>G	XP_006723790.1:p.Pro1283Arg
XM_006723728.2:c.3821C>G	XP_006723791.1:p.Pro1274Arg
XM_006723730.2:c.3767C>G	XP_006723793.1:p.Pro1256Arg
XM_006723732.2:c.3668C>G	XP_006723795.1:p.Pro1223Arg
XM_006723733.1:c.3167C>G	XP_006723796.1:p.Pro1056Arg
XM_011528647.1:c.4115C>G	XP_011526949.1:p.Pro1372Arg
XM_011528648.1:c.4112C>G	XP_011526950.1:p.Pro1371Arg
XM_011528649.1:c.4031C>G	XP_011526951.1:p.Pro1344Arg
XM_011528650.1:c.3962C>G	XP_011526952.1:p.Pro1321Arg
XM_011528651.1:c.3830C>G	XP_011526953.1:p.Pro1277Arg
XM_011528652.1:c.3767C>G	XP_011526954.1:p.Pro1256Arg
NM_001363734.1:c.3668C>G	NP_001350663.1:p.Pro1223Arg
XM_006723727.3:c.3848C>G	XP_006723790.1:p.Pro1283Arg
XM_006723728.3:c.3821C>G	XP_006723791.1:p.Pro1274Arg
XM_006723730.4:c.3767C>G	XP_006723793.1:p.Pro1256Arg
XM_011528648.3:c.4112C>G	XP_011526950.1:p.Pro1371Arg
XM_011528652.2:c.3767C>G	XP_011526954.1:p.Pro1256Arg
XM_017027704.1:c.3767C>G	XP_016883193.1:p.Pro1256Arg
XM_017027705.1:c.3767C>G	XP_016883194.1:p.Pro1256Arg
XM_017027706.1:c.3698C>G	XP_016883195.1:p.Pro1233Arg
NM_015338.6:c.3851C>G MANE Select	NP_056153.2:p.Pro1284Arg