Canonical Allele Identifier: CA337851418

Gene: AGRN

Linked Data

• dbSNP Id: rs758038475
• gnomAD v2: 1-983213-C-G
• gnomAD v3: 1-1047833-C-G
• gnomAD v4: 1-1047833-C-G
• MyVariant Identifiers: chr1:g.983213C>G (hg19) ; chr1:g.1047833C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047833C>G , CM000663.2:g.1047833C>G	GRCh38
NC_000001.10:g.983213C>G , CM000663.1:g.983213C>G	GRCh37
NC_000001.9:g.973076C>G	NCBI36
NG_016346.1:g.32711C>G , LRG_198:g.32711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3689C>G MANE Select	ENSP00000368678.2:p.Ser1230Cys
ENST00000651234.1:c.3374C>G	ENSP00000499046.1:p.Ser1125Cys
ENST00000652369.1:c.3374C>G	ENSP00000498543.1:p.Ser1125Cys
ENST00000379370.6:c.3689C>G	ENSP00000368678.2:p.Ser1230Cys
ENST00000466223.1:n.427C>G
ENST00000478677.1:n.271C>G
ENST00000620552.4:c.3275C>G	ENSP00000484607.1:p.Ser1092Cys
NM_001305275.1:c.3689C>G	NP_001292204.1:p.Ser1230Cys
NM_198576.3:c.3689C>G	NP_940978.2:p.Ser1230Cys
XM_005244749.2:c.3689C>G	XP_005244806.1:p.Ser1230Cys
XM_006710635.2:c.3689C>G	XP_006710698.1:p.Ser1230Cys
XM_011541429.1:c.3689C>G	XP_011539731.1:p.Ser1230Cys
XM_011541430.1:c.2816C>G	XP_011539732.1:p.Ser939Cys
XM_011541431.1:c.1955C>G	XP_011539733.1:p.Ser652Cys
XR_946650.1:n.3756C>G
NM_001364727.1:c.3374C>G	NP_001351656.1:p.Ser1125Cys
XM_005244749.3:c.3689C>G	XP_005244806.1:p.Ser1230Cys
XM_011541429.2:c.3689C>G	XP_011539731.1:p.Ser1230Cys
XR_946650.2:n.3760C>G
NM_001305275.2:c.3689C>G	NP_001292204.1:p.Ser1230Cys
NM_198576.4:c.3689C>G MANE Select	NP_940978.2:p.Ser1230Cys
NM_001364727.2:c.3374C>G	NP_001351656.1:p.Ser1125Cys