Canonical Allele Identifier: CA14088511

Gene: AGBL1 AGBL1-AS1

Linked Data

• dbSNP Id: rs12901001
• gnomAD v2: 15-86859476-A-G
• gnomAD v3: 15-86316245-A-G
• gnomAD v4: 15-86316245-A-G
• MyVariant Identifiers: chr15:g.86859476A>G (hg19) ; chr15:g.86316245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.86316245A>G , CM000677.2:g.86316245A>G	GRCh38
NC_000015.9:g.86859476A>G , CM000677.1:g.86859476A>G	GRCh37
NC_000015.8:g.84660480A>G	NCBI36
NG_033836.1:g.179235A>G
NG_033836.2:g.241438A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000441037.7:c.2374+20837A>G (AGBL1)	ENSP00000413001.3:n.2374+20837A>G
ENST00000614907.3:c.2374+20837A>G (AGBL1) MANE Select	ENSP00000490608.2:n.2374+20837A>G
ENST00000421325.3:c.2236+20837A>G	ENSP00000397173.3:n.2236+20837A>G
ENST00000441037.6:c.2236+20837A>G	ENSP00000413001.2:n.2236+20837A>G
NM_152336.2:c.2236+20837A>G (AGBL1)	NP_689549.2:n.2236+20837A>G
NR_046012.1:n.239+485T>C (AGBL1-AS1)
XM_011521226.1:c.2374+20837A>G (AGBL1)	XP_011519528.1:n.2374+20837A>G
XM_011521227.1:c.2374+20837A>G (AGBL1)	XP_011519529.1:n.2374+20837A>G
XR_931750.1:n.2415+20837A>G (AGBL1)
NM_152336.3:c.2374+20837A>G (AGBL1)	NP_689549.3:n.2374+20837A>G
XM_011521226.3:c.2374+20837A>G (AGBL1)	XP_011519528.1:n.2374+20837A>G
XM_011521227.3:c.2374+20837A>G (AGBL1)	XP_011519529.1:n.2374+20837A>G
XM_017021918.2:c.2341+20837A>G (AGBL1)	XP_016877407.1:n.2341+20837A>G
XM_017021919.2:c.2290+20837A>G (AGBL1)	XP_016877408.1:n.2290+20837A>G
XM_017021920.2:c.2374+20837A>G (AGBL1)	XP_016877409.1:n.2374+20837A>G
XR_931750.3:n.2563+20837A>G (AGBL1)
NM_152336.4:c.2374+20837A>G (AGBL1)	NP_689549.3:n.2374+20837A>G
NM_001386094.1:c.2374+20837A>G (AGBL1) MANE Select	NP_001373023.1:n.2374+20837A>G