Canonical Allele Identifier: CA408552661

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32429423C>T , CM000682.2:g.32429423C>T	GRCh38
NC_000020.10:g.31017226C>T , CM000682.1:g.31017226C>T	GRCh37
NC_000020.9:g.30480887C>T	NCBI36
NG_027868.1:g.76080C>T , LRG_630:g.76080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.557C>T MANE Select	ENSP00000364839.4:p.Ser186Phe
ENST00000470145.3:n.576C>T
ENST00000644587.1:c.*396C>T	ENSP00000494813.1:n.*396C>T
ENST00000644615.1:n.261C>T
ENST00000646985.1:c.527C>T	ENSP00000495053.1:p.Ser176Phe
ENST00000647223.1:n.660C>T
ENST00000651418.1:c.557C>T	ENSP00000499150.1:p.Ser186Phe
ENST00000306058.9:c.542C>T	ENSP00000305119.5:p.Ser181Phe
ENST00000375687.8:c.557C>T	ENSP00000364839.4:p.Ser186Phe
ENST00000470145.2:n.576C>T
ENST00000613218.4:c.557C>T	ENSP00000480487.1:p.Ser186Phe
ENST00000620121.4:c.557C>T	ENSP00000481978.1:p.Ser186Phe
NM_015338.5:c.557C>T , LRG_630t1:c.557C>T	NP_056153.2:p.Ser186Phe
XM_006723727.2:c.554C>T	XP_006723790.1:p.Ser185Phe
XM_006723728.2:c.527C>T	XP_006723791.1:p.Ser176Phe
XM_006723730.2:c.473C>T	XP_006723793.1:p.Ser158Phe
XM_006723732.2:c.527C>T	XP_006723795.1:p.Ser176Phe
XM_011528647.1:c.821C>T	XP_011526949.1:p.Ser274Phe
XM_011528648.1:c.818C>T	XP_011526950.1:p.Ser273Phe
XM_011528649.1:c.737C>T	XP_011526951.1:p.Ser246Phe
XM_011528650.1:c.821C>T	XP_011526952.1:p.Ser274Phe
XM_011528651.1:c.536C>T	XP_011526953.1:p.Ser179Phe
XM_011528652.1:c.473C>T	XP_011526954.1:p.Ser158Phe
NM_001363734.1:c.527C>T	NP_001350663.1:p.Ser176Phe
XM_006723727.3:c.554C>T	XP_006723790.1:p.Ser185Phe
XM_006723728.3:c.527C>T	XP_006723791.1:p.Ser176Phe
XM_006723730.4:c.473C>T	XP_006723793.1:p.Ser158Phe
XM_011528648.3:c.818C>T	XP_011526950.1:p.Ser273Phe
XM_011528652.2:c.473C>T	XP_011526954.1:p.Ser158Phe
XM_017027704.1:c.473C>T	XP_016883193.1:p.Ser158Phe
XM_017027705.1:c.473C>T	XP_016883194.1:p.Ser158Phe
XM_017027706.1:c.557C>T	XP_016883195.1:p.Ser186Phe
NM_015338.6:c.557C>T MANE Select	NP_056153.2:p.Ser186Phe