Canonical Allele Identifier: CA510466532

Gene: ASXL1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435605C>A , CM000682.2:g.32435605C>A	GRCh38
NC_000020.10:g.31023408C>A , CM000682.1:g.31023408C>A	GRCh37
NC_000020.9:g.30487069C>A	NCBI36
NG_027868.1:g.82262C>A , LRG_630:g.82262C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.2893C>A MANE Select	ENSP00000364839.4:p.Arg965=
ENST00000646985.1:c.2710C>A	ENSP00000495053.1:p.Arg904=
ENST00000647223.1:n.5246C>A
ENST00000651418.1:c.1869+1024C>A	ENSP00000499150.1:n.1869+1024C>A
ENST00000306058.9:c.2878C>A	ENSP00000305119.5:p.Arg960=
ENST00000375687.8:c.2893C>A	ENSP00000364839.4:p.Arg965=
ENST00000613218.4:c.2893C>A	ENSP00000480487.1:p.Arg965=
ENST00000620121.4:c.2893C>A	ENSP00000481978.1:p.Arg965=
NM_015338.5:c.2893C>A , LRG_630t1:c.2893C>A	NP_056153.2:p.Arg965=
XM_006723727.2:c.2890C>A	XP_006723790.1:p.Arg964=
XM_006723728.2:c.2863C>A	XP_006723791.1:p.Arg955=
XM_006723730.2:c.2809C>A	XP_006723793.1:p.Arg937=
XM_006723732.2:c.2710C>A	XP_006723795.1:p.Arg904=
XM_006723733.1:c.2209C>A	XP_006723796.1:p.Arg737=
XM_011528647.1:c.3157C>A	XP_011526949.1:p.Arg1053=
XM_011528648.1:c.3154C>A	XP_011526950.1:p.Arg1052=
XM_011528649.1:c.3073C>A	XP_011526951.1:p.Arg1025=
XM_011528650.1:c.3004C>A	XP_011526952.1:p.Arg1002=
XM_011528651.1:c.2872C>A	XP_011526953.1:p.Arg958=
XM_011528652.1:c.2809C>A	XP_011526954.1:p.Arg937=
NM_001363734.1:c.2710C>A	NP_001350663.1:p.Arg904=
XM_006723727.3:c.2890C>A	XP_006723790.1:p.Arg964=
XM_006723728.3:c.2863C>A	XP_006723791.1:p.Arg955=
XM_006723730.4:c.2809C>A	XP_006723793.1:p.Arg937=
XM_011528648.3:c.3154C>A	XP_011526950.1:p.Arg1052=
XM_011528652.2:c.2809C>A	XP_011526954.1:p.Arg937=
XM_017027704.1:c.2809C>A	XP_016883193.1:p.Arg937=
XM_017027705.1:c.2809C>A	XP_016883194.1:p.Arg937=
XM_017027706.1:c.2740C>A	XP_016883195.1:p.Arg914=
NM_015338.6:c.2893C>A MANE Select	NP_056153.2:p.Arg965=