Canonical Allele Identifier: CA2360289970

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428245G= , CM000682.2:g.32428245G=	GRCh38
NC_000020.10:g.31016048G= , CM000682.1:g.31016048G=	GRCh37
NC_000020.9:g.30479709G=	NCBI36
NG_027868.1:g.74902G= , LRG_630:g.74902G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.370G= MANE Select	ENSP00000364839.4:p.Asp124=
ENST00000470145.3:n.313G=
ENST00000643168.1:c.286G=	ENSP00000495003.1:p.Asp96=
ENST00000644060.1:n.1174G=
ENST00000644587.1:c.*209G=	ENSP00000494813.1:n.*209G=
ENST00000644615.1:n.74G=
ENST00000645514.1:n.118G=
ENST00000646985.1:c.340G=	ENSP00000495053.1:p.Asp114=
ENST00000651418.1:c.370G=	ENSP00000499150.1:p.Asp124=
ENST00000306058.9:c.355G=	ENSP00000305119.5:p.Asp119=
ENST00000375687.8:c.370G=	ENSP00000364839.4:p.Asp124=
ENST00000470145.2:n.313G=
ENST00000613218.4:c.370G=	ENSP00000480487.1:p.Asp124=
ENST00000620121.4:c.370G=	ENSP00000481978.1:p.Asp124=
NM_015338.5:c.370G= , LRG_630t1:c.370G=	NP_056153.2:p.Asp124=
XM_006723727.2:c.367G=	XP_006723790.1:p.Asp123=
XM_006723728.2:c.340G=	XP_006723791.1:p.Asp114=
XM_006723730.2:c.286G=	XP_006723793.1:p.Asp96=
XM_006723732.2:c.340G=	XP_006723795.1:p.Asp114=
XM_011528647.1:c.634G=	XP_011526949.1:p.Asp212=
XM_011528648.1:c.631G=	XP_011526950.1:p.Asp211=
XM_011528649.1:c.550G=	XP_011526951.1:p.Asp184=
XM_011528650.1:c.634G=	XP_011526952.1:p.Asp212=
XM_011528651.1:c.349G=	XP_011526953.1:p.Asp117=
XM_011528652.1:c.286G=	XP_011526954.1:p.Asp96=
NM_001363734.1:c.340G=	NP_001350663.1:p.Asp114=
XM_006723727.3:c.367G=	XP_006723790.1:p.Asp123=
XM_006723728.3:c.340G=	XP_006723791.1:p.Asp114=
XM_006723730.4:c.286G=	XP_006723793.1:p.Asp96=
XM_011528648.3:c.631G=	XP_011526950.1:p.Asp211=
XM_011528652.2:c.286G=	XP_011526954.1:p.Asp96=
XM_017027704.1:c.286G=	XP_016883193.1:p.Asp96=
XM_017027705.1:c.286G=	XP_016883194.1:p.Asp96=
XM_017027706.1:c.370G=	XP_016883195.1:p.Asp124=
NM_015338.6:c.370G= MANE Select	NP_056153.2:p.Asp124=