Canonical Allele Identifier: CA408563927

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024366C>A (hg19) ; chr20:g.32436563C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3851C>A MANE Select	ENSP00000364839.4:p.Pro1284Gln
ENST00000646985.1:c.3668C>A	ENSP00000495053.1:p.Pro1223Gln
ENST00000647223.1:n.6204C>A
ENST00000651418.1:c.1870-1867C>A	ENSP00000499150.1:n.1870-1867C>A
ENST00000306058.9:c.3836C>A	ENSP00000305119.5:p.Pro1279Gln
ENST00000375687.8:c.3851C>A	ENSP00000364839.4:p.Pro1284Gln
ENST00000613218.4:c.3851C>A	ENSP00000480487.1:p.Pro1284Gln
ENST00000620121.4:c.3851C>A	ENSP00000481978.1:p.Pro1284Gln
NM_015338.5:c.3851C>A , LRG_630t1:c.3851C>A	NP_056153.2:p.Pro1284Gln
XM_006723727.2:c.3848C>A	XP_006723790.1:p.Pro1283Gln
XM_006723728.2:c.3821C>A	XP_006723791.1:p.Pro1274Gln
XM_006723730.2:c.3767C>A	XP_006723793.1:p.Pro1256Gln
XM_006723732.2:c.3668C>A	XP_006723795.1:p.Pro1223Gln
XM_006723733.1:c.3167C>A	XP_006723796.1:p.Pro1056Gln
XM_011528647.1:c.4115C>A	XP_011526949.1:p.Pro1372Gln
XM_011528648.1:c.4112C>A	XP_011526950.1:p.Pro1371Gln
XM_011528649.1:c.4031C>A	XP_011526951.1:p.Pro1344Gln
XM_011528650.1:c.3962C>A	XP_011526952.1:p.Pro1321Gln
XM_011528651.1:c.3830C>A	XP_011526953.1:p.Pro1277Gln
XM_011528652.1:c.3767C>A	XP_011526954.1:p.Pro1256Gln
NM_001363734.1:c.3668C>A	NP_001350663.1:p.Pro1223Gln
XM_006723727.3:c.3848C>A	XP_006723790.1:p.Pro1283Gln
XM_006723728.3:c.3821C>A	XP_006723791.1:p.Pro1274Gln
XM_006723730.4:c.3767C>A	XP_006723793.1:p.Pro1256Gln
XM_011528648.3:c.4112C>A	XP_011526950.1:p.Pro1371Gln
XM_011528652.2:c.3767C>A	XP_011526954.1:p.Pro1256Gln
XM_017027704.1:c.3767C>A	XP_016883193.1:p.Pro1256Gln
XM_017027705.1:c.3767C>A	XP_016883194.1:p.Pro1256Gln
XM_017027706.1:c.3698C>A	XP_016883195.1:p.Pro1233Gln
NM_015338.6:c.3851C>A MANE Select	NP_056153.2:p.Pro1284Gln