Canonical Allele Identifier: CA509654

Gene: AGRN

Linked Data

• ClinVar Variation Id: 936711
• ClinVar RCV Id: RCV001205563
• dbSNP Id: rs770435802
• ExAC: 1:985360 G / A
• gnomAD v2: 1-985360-G-A
• gnomAD v4: 1-1049980-G-A
• MyVariant Identifiers: chr1:g.985360G>A (hg19) ; chr1:g.1049980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049980G>A , CM000663.2:g.1049980G>A	GRCh38
NC_000001.10:g.985360G>A , CM000663.1:g.985360G>A	GRCh37
NC_000001.9:g.975223G>A	NCBI36
NG_016346.1:g.34858G>A , LRG_198:g.34858G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.4822G>A MANE Select	ENSP00000368678.2:p.Glu1608Lys
ENST00000651234.1:c.4507G>A	ENSP00000499046.1:p.Glu1503Lys
ENST00000652369.1:c.4507G>A	ENSP00000498543.1:p.Glu1503Lys
ENST00000379370.6:c.4822G>A	ENSP00000368678.2:p.Glu1608Lys
ENST00000620552.4:c.4408G>A	ENSP00000484607.1:p.Glu1470Lys
NM_001305275.1:c.4822G>A	NP_001292204.1:p.Glu1608Lys
NM_198576.3:c.4822G>A	NP_940978.2:p.Glu1608Lys
XM_005244749.2:c.4822G>A	XP_005244806.1:p.Glu1608Lys
XM_006710635.2:c.4822G>A	XP_006710698.1:p.Glu1608Lys
XM_011541429.1:c.4822G>A	XP_011539731.1:p.Glu1608Lys
XM_011541430.1:c.3949G>A	XP_011539732.1:p.Glu1317Lys
XM_011541431.1:c.3088G>A	XP_011539733.1:p.Glu1030Lys
XR_946650.1:n.4889G>A
NM_001364727.1:c.4507G>A	NP_001351656.1:p.Glu1503Lys
XM_005244749.3:c.4822G>A	XP_005244806.1:p.Glu1608Lys
XM_011541429.2:c.4822G>A	XP_011539731.1:p.Glu1608Lys
XR_946650.2:n.4893G>A
NM_001305275.2:c.4822G>A	NP_001292204.1:p.Glu1608Lys
NM_198576.4:c.4822G>A MANE Select	NP_940978.2:p.Glu1608Lys
NM_001364727.2:c.4507G>A	NP_001351656.1:p.Glu1503Lys