Canonical Allele Identifier: CA337836193

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1009604
• ClinVar RCV Id: RCV001307118
• dbSNP Id: rs1246526127
• gnomAD v2: 1-979587-G-A
• gnomAD v4: 1-1044207-G-A
• MyVariant Identifiers: chr1:g.979587G>A (hg19) ; chr1:g.1044207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044207G>A , CM000663.2:g.1044207G>A	GRCh38
NC_000001.10:g.979587G>A , CM000663.1:g.979587G>A	GRCh37
NC_000001.9:g.969450G>A	NCBI36
NG_016346.1:g.29085G>A , LRG_198:g.29085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2098G>A MANE Select	ENSP00000368678.2:p.Asp700Asn
ENST00000651234.1:c.1783G>A	ENSP00000499046.1:p.Asp595Asn
ENST00000652369.1:c.1783G>A	ENSP00000498543.1:p.Asp595Asn
ENST00000379370.6:c.2098G>A	ENSP00000368678.2:p.Asp700Asn
ENST00000620552.4:c.1684G>A	ENSP00000484607.1:p.Asp562Asn
NM_001305275.1:c.2098G>A	NP_001292204.1:p.Asp700Asn
NM_198576.3:c.2098G>A	NP_940978.2:p.Asp700Asn
XM_005244749.2:c.2098G>A	XP_005244806.1:p.Asp700Asn
XM_006710635.2:c.2098G>A	XP_006710698.1:p.Asp700Asn
XM_011541429.1:c.2098G>A	XP_011539731.1:p.Asp700Asn
XM_011541430.1:c.1225G>A	XP_011539732.1:p.Asp409Asn
XM_011541431.1:c.364G>A	XP_011539733.1:p.Asp122Asn
XR_946650.1:n.2165G>A
NM_001364727.1:c.1783G>A	NP_001351656.1:p.Asp595Asn
XM_005244749.3:c.2098G>A	XP_005244806.1:p.Asp700Asn
XM_011541429.2:c.2098G>A	XP_011539731.1:p.Asp700Asn
XR_946650.2:n.2169G>A
NM_001305275.2:c.2098G>A	NP_001292204.1:p.Asp700Asn
NM_198576.4:c.2098G>A MANE Select	NP_940978.2:p.Asp700Asn
NM_001364727.2:c.1783G>A	NP_001351656.1:p.Asp595Asn