Canonical Allele Identifier: CA2360293673

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436377C= , CM000682.2:g.32436377C=	GRCh38
NC_000020.10:g.31024180C= , CM000682.1:g.31024180C=	GRCh37
NC_000020.9:g.30487841C=	NCBI36
NG_027868.1:g.83034C= , LRG_630:g.83034C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3665C= MANE Select	ENSP00000364839.4:p.Ser1222=
ENST00000646985.1:c.3482C=	ENSP00000495053.1:p.Ser1161=
ENST00000647223.1:n.6018C=
ENST00000651418.1:c.1869+1796C=	ENSP00000499150.1:n.1869+1796C=
ENST00000306058.9:c.3650C=	ENSP00000305119.5:p.Ser1217=
ENST00000375687.8:c.3665C=	ENSP00000364839.4:p.Ser1222=
ENST00000613218.4:c.3665C=	ENSP00000480487.1:p.Ser1222=
ENST00000620121.4:c.3665C=	ENSP00000481978.1:p.Ser1222=
NM_015338.5:c.3665C= , LRG_630t1:c.3665C=	NP_056153.2:p.Ser1222=
XM_006723727.2:c.3662C=	XP_006723790.1:p.Ser1221=
XM_006723728.2:c.3635C=	XP_006723791.1:p.Ser1212=
XM_006723730.2:c.3581C=	XP_006723793.1:p.Ser1194=
XM_006723732.2:c.3482C=	XP_006723795.1:p.Ser1161=
XM_006723733.1:c.2981C=	XP_006723796.1:p.Ser994=
XM_011528647.1:c.3929C=	XP_011526949.1:p.Ser1310=
XM_011528648.1:c.3926C=	XP_011526950.1:p.Ser1309=
XM_011528649.1:c.3845C=	XP_011526951.1:p.Ser1282=
XM_011528650.1:c.3776C=	XP_011526952.1:p.Ser1259=
XM_011528651.1:c.3644C=	XP_011526953.1:p.Ser1215=
XM_011528652.1:c.3581C=	XP_011526954.1:p.Ser1194=
NM_001363734.1:c.3482C=	NP_001350663.1:p.Ser1161=
XM_006723727.3:c.3662C=	XP_006723790.1:p.Ser1221=
XM_006723728.3:c.3635C=	XP_006723791.1:p.Ser1212=
XM_006723730.4:c.3581C=	XP_006723793.1:p.Ser1194=
XM_011528648.3:c.3926C=	XP_011526950.1:p.Ser1309=
XM_011528652.2:c.3581C=	XP_011526954.1:p.Ser1194=
XM_017027704.1:c.3581C=	XP_016883193.1:p.Ser1194=
XM_017027705.1:c.3581C=	XP_016883194.1:p.Ser1194=
XM_017027706.1:c.3512C=	XP_016883195.1:p.Ser1171=
NM_015338.6:c.3665C= MANE Select	NP_056153.2:p.Ser1222=