Canonical Allele Identifier: CA145339

Gene: AGBL1

Linked Data

• ClinVar Variation Id: 88758
• ClinVar RCV Id: RCV000074409
• dbSNP Id: rs181958589
• ExAC: 15:87217553 G / C
• gnomAD v2: 15-87217553-G-C
• gnomAD v3: 15-86674322-G-C
• gnomAD v4: 15-86674322-G-C
• MyVariant Identifiers: chr15:g.87217553G>C (hg19) ; chr15:g.86674322G>C (hg38)
• PubMed: PMID:24094747

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000441037.7:c.3107G>C	ENSP00000413001.3:p.Cys1036Ser
ENST00000614907.3:c.3044G>C MANE Select	ENSP00000490608.2:p.Cys1015Ser
ENST00000681381.1:n.203G>C
ENST00000421325.3:c.2969G>C	ENSP00000397173.3:p.Cys990Ser
ENST00000441037.6:c.2969G>C	ENSP00000413001.2:p.Cys990Ser
NM_152336.2:c.2969G>C	NP_689549.2:p.Cys990Ser
XM_011521226.1:c.3044G>C	XP_011519528.1:p.Cys1015Ser
XM_011521227.1:c.3044G>C	XP_011519529.1:p.Cys1015Ser
NM_152336.3:c.3107G>C	NP_689549.3:p.Cys1036Ser
XM_011521226.3:c.3044G>C	XP_011519528.1:p.Cys1015Ser
XM_011521227.3:c.3044G>C	XP_011519529.1:p.Cys1015Ser
XM_017021918.2:c.3011G>C	XP_016877407.1:p.Cys1004Ser
XM_017021919.2:c.2960G>C	XP_016877408.1:p.Cys987Ser
NM_152336.4:c.3107G>C	NP_689549.3:p.Cys1036Ser
NM_001386094.1:c.3044G>C MANE Select	NP_001373023.1:p.Cys1015Ser