Canonical Allele Identifier: CA205668

Gene: AGRN

Linked Data

• ClinVar Variation Id: 210106
• ClinVar RCV Id: RCV000192681 ; RCV000761626 ; RCV001086483 ; RCV003891756
• dbSNP Id: rs143324306
• ExAC: 1:979397 G / A
• gnomAD v2: 1-979397-G-A
• gnomAD v3: 1-1044017-G-A
• gnomAD v4: 1-1044017-G-A
• MyVariant Identifiers: chr1:g.979397G>A (hg19) ; chr1:g.1044017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044017G>A , CM000663.2:g.1044017G>A	GRCh38
NC_000001.10:g.979397G>A , CM000663.1:g.979397G>A	GRCh37
NC_000001.9:g.969260G>A	NCBI36
NG_016346.1:g.28895G>A , LRG_198:g.28895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1993G>A MANE Select	ENSP00000368678.2:p.Glu665Lys
ENST00000651234.1:c.1678G>A	ENSP00000499046.1:p.Glu560Lys
ENST00000652369.1:c.1678G>A	ENSP00000498543.1:p.Glu560Lys
ENST00000379370.6:c.1993G>A	ENSP00000368678.2:p.Glu665Lys
ENST00000620552.4:c.1579G>A	ENSP00000484607.1:p.Glu527Lys
NM_001305275.1:c.1993G>A	NP_001292204.1:p.Glu665Lys
NM_198576.3:c.1993G>A	NP_940978.2:p.Glu665Lys
XM_005244749.2:c.1993G>A	XP_005244806.1:p.Glu665Lys
XM_006710635.2:c.1993G>A	XP_006710698.1:p.Glu665Lys
XM_011541429.1:c.1993G>A	XP_011539731.1:p.Glu665Lys
XM_011541430.1:c.1120G>A	XP_011539732.1:p.Glu374Lys
XM_011541431.1:c.259G>A	XP_011539733.1:p.Glu87Lys
XR_946650.1:n.2060G>A
NM_001364727.1:c.1678G>A	NP_001351656.1:p.Glu560Lys
XM_005244749.3:c.1993G>A	XP_005244806.1:p.Glu665Lys
XM_011541429.2:c.1993G>A	XP_011539731.1:p.Glu665Lys
XR_946650.2:n.2064G>A
NM_001305275.2:c.1993G>A	NP_001292204.1:p.Glu665Lys
NM_198576.4:c.1993G>A MANE Select	NP_940978.2:p.Glu665Lys
NM_001364727.2:c.1678G>A	NP_001351656.1:p.Glu560Lys