Canonical Allele Identifier: CA393432904

Gene: AGBL1

Linked Data

• dbSNP Id: rs181958589
• gnomAD v3: 15-86674322-G-T
• gnomAD v4: 15-86674322-G-T
• COSMIC: COSM5030317 ; COSM5030318 ; COSM5030319
• MyVariant Identifiers: chr15:g.87217553G>T (hg19) ; chr15:g.86674322G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000441037.7:c.3107G>T	ENSP00000413001.3:p.Cys1036Phe
ENST00000614907.3:c.3044G>T MANE Select	ENSP00000490608.2:p.Cys1015Phe
ENST00000681381.1:n.203G>T
ENST00000421325.3:c.2969G>T	ENSP00000397173.3:p.Cys990Phe
ENST00000441037.6:c.2969G>T	ENSP00000413001.2:p.Cys990Phe
NM_152336.2:c.2969G>T	NP_689549.2:p.Cys990Phe
XM_011521226.1:c.3044G>T	XP_011519528.1:p.Cys1015Phe
XM_011521227.1:c.3044G>T	XP_011519529.1:p.Cys1015Phe
NM_152336.3:c.3107G>T	NP_689549.3:p.Cys1036Phe
XM_011521226.3:c.3044G>T	XP_011519528.1:p.Cys1015Phe
XM_011521227.3:c.3044G>T	XP_011519529.1:p.Cys1015Phe
XM_017021918.2:c.3011G>T	XP_016877407.1:p.Cys1004Phe
XM_017021919.2:c.2960G>T	XP_016877408.1:p.Cys987Phe
NM_152336.4:c.3107G>T	NP_689549.3:p.Cys1036Phe
NM_001386094.1:c.3044G>T MANE Select	NP_001373023.1:p.Cys1015Phe