Canonical Allele Identifier: CA9808145

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32429917C>T , CM000682.2:g.32429917C>T	GRCh38
NC_000020.10:g.31017720C>T , CM000682.1:g.31017720C>T	GRCh37
NC_000020.9:g.30481381C>T	NCBI36
NG_027868.1:g.76574C>T , LRG_630:g.76574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.582C>T MANE Select	ENSP00000364839.4:p.His194=
ENST00000470145.3:n.1070C>T
ENST00000555564.2:n.36C>T
ENST00000646985.1:c.535+486C>T	ENSP00000495053.1:n.535+486C>T
ENST00000647223.1:n.1154C>T
ENST00000651418.1:c.582C>T	ENSP00000499150.1:p.His194=
ENST00000306058.9:c.567C>T	ENSP00000305119.5:p.His189=
ENST00000375687.8:c.582C>T	ENSP00000364839.4:p.His194=
ENST00000470145.2:n.1070C>T
ENST00000613218.4:c.582C>T	ENSP00000480487.1:p.His194=
ENST00000619344.4:n.178C>T
ENST00000620121.4:c.582C>T	ENSP00000481978.1:p.His194=
NM_015338.5:c.582C>T , LRG_630t1:c.582C>T	NP_056153.2:p.His194=
XM_006723727.2:c.579C>T	XP_006723790.1:p.His193=
XM_006723728.2:c.552C>T	XP_006723791.1:p.His184=
XM_006723730.2:c.498C>T	XP_006723793.1:p.His166=
XM_006723732.2:c.535+486C>T	XP_006723795.1:n.535+486C>T
XM_011528647.1:c.846C>T	XP_011526949.1:p.His282=
XM_011528648.1:c.843C>T	XP_011526950.1:p.His281=
XM_011528649.1:c.762C>T	XP_011526951.1:p.His254=
XM_011528650.1:c.829+486C>T	XP_011526952.1:n.829+486C>T
XM_011528651.1:c.561C>T	XP_011526953.1:p.His187=
XM_011528652.1:c.498C>T	XP_011526954.1:p.His166=
NM_001363734.1:c.535+486C>T	NP_001350663.1:n.535+486C>T
XM_006723727.3:c.579C>T	XP_006723790.1:p.His193=
XM_006723728.3:c.552C>T	XP_006723791.1:p.His184=
XM_006723730.4:c.498C>T	XP_006723793.1:p.His166=
XM_011528648.3:c.843C>T	XP_011526950.1:p.His281=
XM_011528652.2:c.498C>T	XP_011526954.1:p.His166=
XM_017027704.1:c.498C>T	XP_016883193.1:p.His166=
XM_017027705.1:c.498C>T	XP_016883194.1:p.His166=
XM_017027706.1:c.565+486C>T	XP_016883195.1:n.565+486C>T
NM_015338.6:c.582C>T MANE Select	NP_056153.2:p.His194=