Canonical Allele Identifier: CA2360293852

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436758T= , CM000682.2:g.32436758T=	GRCh38
NC_000020.10:g.31024561T= , CM000682.1:g.31024561T=	GRCh37
NC_000020.9:g.30488222T=	NCBI36
NG_027868.1:g.83415T= , LRG_630:g.83415T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4046T= MANE Select	ENSP00000364839.4:p.Val1349=
ENST00000646985.1:c.3863T=	ENSP00000495053.1:p.Val1288=
ENST00000647223.1:n.6399T=
ENST00000651418.1:c.1870-1672T=	ENSP00000499150.1:n.1870-1672T=
ENST00000306058.9:c.4031T=	ENSP00000305119.5:p.Val1344=
ENST00000375687.8:c.4046T=	ENSP00000364839.4:p.Val1349=
ENST00000613218.4:c.4046T=	ENSP00000480487.1:p.Val1349=
ENST00000620121.4:c.4046T=	ENSP00000481978.1:p.Val1349=
NM_015338.5:c.4046T= , LRG_630t1:c.4046T=	NP_056153.2:p.Val1349=
XM_006723727.2:c.4043T=	XP_006723790.1:p.Val1348=
XM_006723728.2:c.4016T=	XP_006723791.1:p.Val1339=
XM_006723730.2:c.3962T=	XP_006723793.1:p.Val1321=
XM_006723732.2:c.3863T=	XP_006723795.1:p.Val1288=
XM_006723733.1:c.3362T=	XP_006723796.1:p.Val1121=
XM_011528647.1:c.4310T=	XP_011526949.1:p.Val1437=
XM_011528648.1:c.4307T=	XP_011526950.1:p.Val1436=
XM_011528649.1:c.4226T=	XP_011526951.1:p.Val1409=
XM_011528650.1:c.4157T=	XP_011526952.1:p.Val1386=
XM_011528651.1:c.4025T=	XP_011526953.1:p.Val1342=
XM_011528652.1:c.3962T=	XP_011526954.1:p.Val1321=
NM_001363734.1:c.3863T=	NP_001350663.1:p.Val1288=
XM_006723727.3:c.4043T=	XP_006723790.1:p.Val1348=
XM_006723728.3:c.4016T=	XP_006723791.1:p.Val1339=
XM_006723730.4:c.3962T=	XP_006723793.1:p.Val1321=
XM_011528648.3:c.4307T=	XP_011526950.1:p.Val1436=
XM_011528652.2:c.3962T=	XP_011526954.1:p.Val1321=
XM_017027704.1:c.3962T=	XP_016883193.1:p.Val1321=
XM_017027705.1:c.3962T=	XP_016883194.1:p.Val1321=
XM_017027706.1:c.3893T=	XP_016883195.1:p.Val1298=
NM_015338.6:c.4046T= MANE Select	NP_056153.2:p.Val1349=