Canonical Allele Identifier: CA274884149

Gene: AGBL1

Linked Data

• dbSNP Id: rs183575324
• gnomAD v2: 15-87064109-C-A
• gnomAD v3: 15-86520878-C-A
• gnomAD v4: 15-86520878-C-A
• MyVariant Identifiers: chr15:g.87064109C>A (hg19) ; chr15:g.86520878C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.86520878C>A , CM000677.2:g.86520878C>A	GRCh38
NC_000015.9:g.87064109C>A , CM000677.1:g.87064109C>A	GRCh37
NC_000015.8:g.84865113C>A	NCBI36
NG_033836.1:g.383868C>A
NG_033836.2:g.446071C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000441037.7:c.2556-1932C>A	ENSP00000413001.3:n.2556-1932C>A
ENST00000614907.3:c.2556-1932C>A MANE Select	ENSP00000490608.2:n.2556-1932C>A
ENST00000421325.3:c.2418-1932C>A	ENSP00000397173.3:n.2418-1932C>A
ENST00000441037.6:c.2418-1932C>A	ENSP00000413001.2:n.2418-1932C>A
NM_152336.2:c.2418-1932C>A	NP_689549.2:n.2418-1932C>A
XM_011521226.1:c.2556-1932C>A	XP_011519528.1:n.2556-1932C>A
XM_011521227.1:c.2556-1932C>A	XP_011519529.1:n.2556-1932C>A
XR_931750.1:n.2597-1932C>A
NM_152336.3:c.2556-1932C>A	NP_689549.3:n.2556-1932C>A
XM_011521226.3:c.2556-1932C>A	XP_011519528.1:n.2556-1932C>A
XM_011521227.3:c.2556-1932C>A	XP_011519529.1:n.2556-1932C>A
XM_017021918.2:c.2523-1932C>A	XP_016877407.1:n.2523-1932C>A
XM_017021919.2:c.2472-1932C>A	XP_016877408.1:n.2472-1932C>A
XR_931750.3:n.2745-1932C>A
NM_152336.4:c.2556-1932C>A	NP_689549.3:n.2556-1932C>A
NM_001386094.1:c.2556-1932C>A MANE Select	NP_001373023.1:n.2556-1932C>A