Canonical Allele Identifier: CA2360292246

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32433480C= , CM000682.2:g.32433480C=	GRCh38
NC_000020.10:g.31021283C= , CM000682.1:g.31021283C=	GRCh37
NC_000020.9:g.30484944C=	NCBI36
NG_027868.1:g.80137C= , LRG_630:g.80137C=

Transcript Alleles

HGVS	Amino-acid Change
NM_015338.6:c.1282C= MANE Select	NP_056153.2:p.Gln428=
ENST00000375687.10:c.1282C= MANE Select	ENSP00000364839.4:p.Gln428=
NM_001363734.1:c.1099C=	NP_001350663.1:p.Gln367=
NM_015338.5:c.1282C= , LRG_630t1:c.1282C=	NP_056153.2:p.Gln428=
ENST00000306058.9:c.1267C=	ENSP00000305119.5:p.Gln423=
ENST00000375687.8:c.1282C=	ENSP00000364839.4:p.Gln428=
ENST00000613218.4:c.1282C=	ENSP00000480487.1:p.Gln428=
ENST00000620121.4:c.1282C=	ENSP00000481978.1:p.Gln428=
ENST00000644168.1:n.824C=
ENST00000646985.1:c.1099C=	ENSP00000495053.1:p.Gln367=
ENST00000647223.1:n.3121C=
ENST00000651418.1:c.1282C=	ENSP00000499150.1:p.Gln428=
XM_006723727.2:c.1279C=	XP_006723790.1:p.Gln427=
XM_006723727.3:c.1279C=	XP_006723790.1:p.Gln427=
XM_006723728.2:c.1252C=	XP_006723791.1:p.Gln418=
XM_006723728.3:c.1252C=	XP_006723791.1:p.Gln418=
XM_006723730.2:c.1198C=	XP_006723793.1:p.Gln400=
XM_006723730.4:c.1198C=	XP_006723793.1:p.Gln400=
XM_006723732.2:c.1099C=	XP_006723795.1:p.Gln367=
XM_006723733.1:c.598C=	XP_006723796.1:p.Gln200=
XM_011528647.1:c.1546C=	XP_011526949.1:p.Gln516=
XM_011528648.1:c.1543C=	XP_011526950.1:p.Gln515=
XM_011528648.3:c.1543C=	XP_011526950.1:p.Gln515=
XM_011528649.1:c.1462C=	XP_011526951.1:p.Gln488=
XM_011528650.1:c.1393C=	XP_011526952.1:p.Gln465=
XM_011528651.1:c.1261C=	XP_011526953.1:p.Gln421=
XM_011528652.1:c.1198C=	XP_011526954.1:p.Gln400=
XM_011528652.2:c.1198C=	XP_011526954.1:p.Gln400=
XM_017027704.1:c.1198C=	XP_016883193.1:p.Gln400=
XM_017027705.1:c.1198C=	XP_016883194.1:p.Gln400=
XM_017027706.1:c.1129C=	XP_016883195.1:p.Gln377=