Canonical Allele Identifier: CA393432903

Gene: AGBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.86674322G>A , CM000677.2:g.86674322G>A	GRCh38
NC_000015.9:g.87217553G>A , CM000677.1:g.87217553G>A	GRCh37
NC_000015.8:g.85018557G>A	NCBI36
NG_033836.1:g.537312G>A
NG_033836.2:g.599515G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386094.1:c.3044G>A MANE Select	NP_001373023.1:p.Cys1015Tyr
ENST00000614907.3:c.3044G>A MANE Select	ENSP00000490608.2:p.Cys1015Tyr
NM_152336.2:c.2969G>A	NP_689549.2:p.Cys990Tyr
NM_152336.3:c.3107G>A	NP_689549.3:p.Cys1036Tyr
NM_152336.4:c.3107G>A	NP_689549.3:p.Cys1036Tyr
ENST00000421325.3:c.2969G>A	ENSP00000397173.3:p.Cys990Tyr
ENST00000441037.6:c.2969G>A	ENSP00000413001.2:p.Cys990Tyr
ENST00000441037.7:c.3107G>A	ENSP00000413001.3:p.Cys1036Tyr
ENST00000681381.1:n.203G>A
XM_011521226.1:c.3044G>A	XP_011519528.1:p.Cys1015Tyr
XM_011521226.3:c.3044G>A	XP_011519528.1:p.Cys1015Tyr
XM_011521227.1:c.3044G>A	XP_011519529.1:p.Cys1015Tyr
XM_011521227.3:c.3044G>A	XP_011519529.1:p.Cys1015Tyr
XM_017021918.2:c.3011G>A	XP_016877407.1:p.Cys1004Tyr
XM_017021919.2:c.2960G>A	XP_016877408.1:p.Cys987Tyr