Canonical Allele Identifier: CA408562878

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023865C>G (hg19) ; chr20:g.32436062C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436062C>G , CM000682.2:g.32436062C>G	GRCh38
NC_000020.10:g.31023865C>G , CM000682.1:g.31023865C>G	GRCh37
NC_000020.9:g.30487526C>G	NCBI36
NG_027868.1:g.82719C>G , LRG_630:g.82719C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3350C>G MANE Select	ENSP00000364839.4:p.Pro1117Arg
ENST00000646985.1:c.3167C>G	ENSP00000495053.1:p.Pro1056Arg
ENST00000647223.1:n.5703C>G
ENST00000651418.1:c.1869+1481C>G	ENSP00000499150.1:n.1869+1481C>G
ENST00000306058.9:c.3335C>G	ENSP00000305119.5:p.Pro1112Arg
ENST00000375687.8:c.3350C>G	ENSP00000364839.4:p.Pro1117Arg
ENST00000613218.4:c.3350C>G	ENSP00000480487.1:p.Pro1117Arg
ENST00000620121.4:c.3350C>G	ENSP00000481978.1:p.Pro1117Arg
NM_015338.5:c.3350C>G , LRG_630t1:c.3350C>G	NP_056153.2:p.Pro1117Arg
XM_006723727.2:c.3347C>G	XP_006723790.1:p.Pro1116Arg
XM_006723728.2:c.3320C>G	XP_006723791.1:p.Pro1107Arg
XM_006723730.2:c.3266C>G	XP_006723793.1:p.Pro1089Arg
XM_006723732.2:c.3167C>G	XP_006723795.1:p.Pro1056Arg
XM_006723733.1:c.2666C>G	XP_006723796.1:p.Pro889Arg
XM_011528647.1:c.3614C>G	XP_011526949.1:p.Pro1205Arg
XM_011528648.1:c.3611C>G	XP_011526950.1:p.Pro1204Arg
XM_011528649.1:c.3530C>G	XP_011526951.1:p.Pro1177Arg
XM_011528650.1:c.3461C>G	XP_011526952.1:p.Pro1154Arg
XM_011528651.1:c.3329C>G	XP_011526953.1:p.Pro1110Arg
XM_011528652.1:c.3266C>G	XP_011526954.1:p.Pro1089Arg
NM_001363734.1:c.3167C>G	NP_001350663.1:p.Pro1056Arg
XM_006723727.3:c.3347C>G	XP_006723790.1:p.Pro1116Arg
XM_006723728.3:c.3320C>G	XP_006723791.1:p.Pro1107Arg
XM_006723730.4:c.3266C>G	XP_006723793.1:p.Pro1089Arg
XM_011528648.3:c.3611C>G	XP_011526950.1:p.Pro1204Arg
XM_011528652.2:c.3266C>G	XP_011526954.1:p.Pro1089Arg
XM_017027704.1:c.3266C>G	XP_016883193.1:p.Pro1089Arg
XM_017027705.1:c.3266C>G	XP_016883194.1:p.Pro1089Arg
XM_017027706.1:c.3197C>G	XP_016883195.1:p.Pro1066Arg
NM_015338.6:c.3350C>G MANE Select	NP_056153.2:p.Pro1117Arg