Canonical Allele Identifier: CA508359

Gene: AGRN

Linked Data

• ClinVar Variation Id: 843165
• ClinVar RCV Id: RCV001045718
• dbSNP Id: rs761043604
• ExAC: 1:979259 G / A
• gnomAD v2: 1-979259-G-A
• gnomAD v3: 1-1043879-G-A
• gnomAD v4: 1-1043879-G-A
• MyVariant Identifiers: chr1:g.979259G>A (hg19) ; chr1:g.1043879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043879G>A , CM000663.2:g.1043879G>A	GRCh38
NC_000001.10:g.979259G>A , CM000663.1:g.979259G>A	GRCh37
NC_000001.9:g.969122G>A	NCBI36
NG_016346.1:g.28757G>A , LRG_198:g.28757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1855G>A MANE Select	ENSP00000368678.2:p.Val619Met
ENST00000651234.1:c.1540G>A	ENSP00000499046.1:p.Val514Met
ENST00000652369.1:c.1540G>A	ENSP00000498543.1:p.Val514Met
ENST00000379370.6:c.1855G>A	ENSP00000368678.2:p.Val619Met
ENST00000620552.4:c.1441G>A	ENSP00000484607.1:p.Val481Met
NM_001305275.1:c.1855G>A	NP_001292204.1:p.Val619Met
NM_198576.3:c.1855G>A	NP_940978.2:p.Val619Met
XM_005244749.2:c.1855G>A	XP_005244806.1:p.Val619Met
XM_006710635.2:c.1855G>A	XP_006710698.1:p.Val619Met
XM_011541429.1:c.1855G>A	XP_011539731.1:p.Val619Met
XM_011541430.1:c.982G>A	XP_011539732.1:p.Val328Met
XM_011541431.1:c.121G>A	XP_011539733.1:p.Val41Met
XR_946650.1:n.1922G>A
NM_001364727.1:c.1540G>A	NP_001351656.1:p.Val514Met
XM_005244749.3:c.1855G>A	XP_005244806.1:p.Val619Met
XM_011541429.2:c.1855G>A	XP_011539731.1:p.Val619Met
XR_946650.2:n.1926G>A
NM_001305275.2:c.1855G>A	NP_001292204.1:p.Val619Met
NM_198576.4:c.1855G>A MANE Select	NP_940978.2:p.Val619Met
NM_001364727.2:c.1540G>A	NP_001351656.1:p.Val514Met