Canonical Allele Identifier: CA2360293366

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435684C= , CM000682.2:g.32435684C=	GRCh38
NC_000020.10:g.31023487C= , CM000682.1:g.31023487C=	GRCh37
NC_000020.9:g.30487148C=	NCBI36
NG_027868.1:g.82341C= , LRG_630:g.82341C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.2972C= MANE Select	ENSP00000364839.4:p.Ala991=
ENST00000646985.1:c.2789C=	ENSP00000495053.1:p.Ala930=
ENST00000647223.1:n.5325C=
ENST00000651418.1:c.1869+1103C=	ENSP00000499150.1:n.1869+1103C=
ENST00000306058.9:c.2957C=	ENSP00000305119.5:p.Ala986=
ENST00000375687.8:c.2972C=	ENSP00000364839.4:p.Ala991=
ENST00000613218.4:c.2972C=	ENSP00000480487.1:p.Ala991=
ENST00000620121.4:c.2972C=	ENSP00000481978.1:p.Ala991=
NM_015338.5:c.2972C= , LRG_630t1:c.2972C=	NP_056153.2:p.Ala991=
XM_006723727.2:c.2969C=	XP_006723790.1:p.Ala990=
XM_006723728.2:c.2942C=	XP_006723791.1:p.Ala981=
XM_006723730.2:c.2888C=	XP_006723793.1:p.Ala963=
XM_006723732.2:c.2789C=	XP_006723795.1:p.Ala930=
XM_006723733.1:c.2288C=	XP_006723796.1:p.Ala763=
XM_011528647.1:c.3236C=	XP_011526949.1:p.Ala1079=
XM_011528648.1:c.3233C=	XP_011526950.1:p.Ala1078=
XM_011528649.1:c.3152C=	XP_011526951.1:p.Ala1051=
XM_011528650.1:c.3083C=	XP_011526952.1:p.Ala1028=
XM_011528651.1:c.2951C=	XP_011526953.1:p.Ala984=
XM_011528652.1:c.2888C=	XP_011526954.1:p.Ala963=
NM_001363734.1:c.2789C=	NP_001350663.1:p.Ala930=
XM_006723727.3:c.2969C=	XP_006723790.1:p.Ala990=
XM_006723728.3:c.2942C=	XP_006723791.1:p.Ala981=
XM_006723730.4:c.2888C=	XP_006723793.1:p.Ala963=
XM_011528648.3:c.3233C=	XP_011526950.1:p.Ala1078=
XM_011528652.2:c.2888C=	XP_011526954.1:p.Ala963=
XM_017027704.1:c.2888C=	XP_016883193.1:p.Ala963=
XM_017027705.1:c.2888C=	XP_016883194.1:p.Ala963=
XM_017027706.1:c.2819C=	XP_016883195.1:p.Ala940=
NM_015338.6:c.2972C= MANE Select	NP_056153.2:p.Ala991=