Canonical Allele Identifier: CA9808439

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434454C>T , CM000682.2:g.32434454C>T	GRCh38
NC_000020.10:g.31022257C>T , CM000682.1:g.31022257C>T	GRCh37
NC_000020.9:g.30485918C>T	NCBI36
NG_027868.1:g.81111C>T , LRG_630:g.81111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1742C>T MANE Select	ENSP00000364839.4:p.Pro581Leu
ENST00000644168.1:n.1284C>T
ENST00000646985.1:c.1559C>T	ENSP00000495053.1:p.Pro520Leu
ENST00000647223.1:n.4095C>T
ENST00000651418.1:c.1742C>T	ENSP00000499150.1:p.Pro581Leu
ENST00000306058.9:c.1727C>T	ENSP00000305119.5:p.Pro576Leu
ENST00000375687.8:c.1742C>T	ENSP00000364839.4:p.Pro581Leu
ENST00000613218.4:c.1742C>T	ENSP00000480487.1:p.Pro581Leu
ENST00000620121.4:c.1742C>T	ENSP00000481978.1:p.Pro581Leu
NM_015338.5:c.1742C>T , LRG_630t1:c.1742C>T	NP_056153.2:p.Pro581Leu
XM_006723727.2:c.1739C>T	XP_006723790.1:p.Pro580Leu
XM_006723728.2:c.1712C>T	XP_006723791.1:p.Pro571Leu
XM_006723730.2:c.1658C>T	XP_006723793.1:p.Pro553Leu
XM_006723732.2:c.1559C>T	XP_006723795.1:p.Pro520Leu
XM_006723733.1:c.1058C>T	XP_006723796.1:p.Pro353Leu
XM_011528647.1:c.2006C>T	XP_011526949.1:p.Pro669Leu
XM_011528648.1:c.2003C>T	XP_011526950.1:p.Pro668Leu
XM_011528649.1:c.1922C>T	XP_011526951.1:p.Pro641Leu
XM_011528650.1:c.1853C>T	XP_011526952.1:p.Pro618Leu
XM_011528651.1:c.1721C>T	XP_011526953.1:p.Pro574Leu
XM_011528652.1:c.1658C>T	XP_011526954.1:p.Pro553Leu
NM_001363734.1:c.1559C>T	NP_001350663.1:p.Pro520Leu
XM_006723727.3:c.1739C>T	XP_006723790.1:p.Pro580Leu
XM_006723728.3:c.1712C>T	XP_006723791.1:p.Pro571Leu
XM_006723730.4:c.1658C>T	XP_006723793.1:p.Pro553Leu
XM_011528648.3:c.2003C>T	XP_011526950.1:p.Pro668Leu
XM_011528652.2:c.1658C>T	XP_011526954.1:p.Pro553Leu
XM_017027704.1:c.1658C>T	XP_016883193.1:p.Pro553Leu
XM_017027705.1:c.1658C>T	XP_016883194.1:p.Pro553Leu
XM_017027706.1:c.1589C>T	XP_016883195.1:p.Pro530Leu
NM_015338.6:c.1742C>T MANE Select	NP_056153.2:p.Pro581Leu