Canonical Allele Identifier: CA492229070

Gene: AGBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.86674435C>A , CM000677.2:g.86674435C>A	GRCh38
NC_000015.9:g.87217666C>A , CM000677.1:g.87217666C>A	GRCh37
NC_000015.8:g.85018670C>A	NCBI36
NG_033836.1:g.537425C>A
NG_033836.2:g.599628C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386094.1:c.3157C>A MANE Select	NP_001373023.1:p.Arg1053=
ENST00000614907.3:c.3157C>A MANE Select	ENSP00000490608.2:p.Arg1053=
NM_152336.2:c.3082C>A	NP_689549.2:p.Arg1028=
NM_152336.3:c.3220C>A	NP_689549.3:p.Arg1074=
NM_152336.4:c.3220C>A	NP_689549.3:p.Arg1074=
ENST00000421325.3:c.3082C>A	ENSP00000397173.3:p.Arg1028=
ENST00000441037.6:c.3082C>A	ENSP00000413001.2:p.Arg1028=
ENST00000441037.7:c.3220C>A	ENSP00000413001.3:p.Arg1074=
ENST00000681381.1:n.316C>A
XM_011521226.1:c.3157C>A	XP_011519528.1:p.Arg1053=
XM_011521226.3:c.3157C>A	XP_011519528.1:p.Arg1053=
XM_011521227.1:c.3157C>A	XP_011519529.1:p.Arg1053=
XM_011521227.3:c.3157C>A	XP_011519529.1:p.Arg1053=
XM_017021918.2:c.3124C>A	XP_016877407.1:p.Arg1042=
XM_017021919.2:c.3073C>A	XP_016877408.1:p.Arg1025=