Canonical Allele Identifier: CA509850

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1061432
• ClinVar RCV Id: RCV001371009 ; RCV004037493
• dbSNP Id: rs777269140
• ExAC: 1:985926 G / A
• gnomAD v2: 1-985926-G-A
• gnomAD v3: 1-1050546-G-A
• gnomAD v4: 1-1050546-G-A
• MyVariant Identifiers: chr1:g.985926G>A (hg19) ; chr1:g.1050546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050546G>A , CM000663.2:g.1050546G>A	GRCh38
NC_000001.10:g.985926G>A , CM000663.1:g.985926G>A	GRCh37
NC_000001.9:g.975789G>A	NCBI36
NG_016346.1:g.35424G>A , LRG_198:g.35424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.5096G>A MANE Select	ENSP00000368678.2:p.Arg1699His
ENST00000651234.1:c.4781G>A	ENSP00000499046.1:p.Arg1594His
ENST00000652369.1:c.4781G>A	ENSP00000498543.1:p.Arg1594His
ENST00000379370.6:c.5096G>A	ENSP00000368678.2:p.Arg1699His
ENST00000620552.4:c.4682G>A	ENSP00000484607.1:p.Arg1561His
NM_001305275.1:c.5096G>A	NP_001292204.1:p.Arg1699His
NM_198576.3:c.5096G>A	NP_940978.2:p.Arg1699His
XM_005244749.2:c.5096G>A	XP_005244806.1:p.Arg1699His
XM_006710635.2:c.5096G>A	XP_006710698.1:p.Arg1699His
XM_011541429.1:c.5096G>A	XP_011539731.1:p.Arg1699His
XM_011541430.1:c.4223G>A	XP_011539732.1:p.Arg1408His
XM_011541431.1:c.3362G>A	XP_011539733.1:p.Arg1121His
XR_946650.1:n.5163G>A
NM_001364727.1:c.4781G>A	NP_001351656.1:p.Arg1594His
XM_005244749.3:c.5096G>A	XP_005244806.1:p.Arg1699His
XM_011541429.2:c.5096G>A	XP_011539731.1:p.Arg1699His
XR_946650.2:n.5167G>A
NM_001305275.2:c.5096G>A	NP_001292204.1:p.Arg1699His
NM_198576.4:c.5096G>A MANE Select	NP_940978.2:p.Arg1699His
NM_001364727.2:c.4781G>A	NP_001351656.1:p.Arg1594His