Canonical Allele Identifier: CA151196
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 126555
ClinVar RCV Id: RCV000114427 RCV000235038
dbSNP Id: rs587777298
gnomAD v4: 1-1050763-G-T
MyVariant Identifiers: chr1:g.986143G>T (hg19) chr1:g.1050763G>T (hg38)
PubMed: PMID:20301347 PMID:22205389
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1050763G>T , CM000663.2:g.1050763G>T GRCh38
NC_000001.10:g.986143G>T , CM000663.1:g.986143G>T GRCh37
NC_000001.9:g.976006G>T NCBI36
NG_016346.1:g.35641G>T , LRG_198:g.35641G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379370.7:c.5179G>T MANE Select ENSP00000368678.2:p.Val1727Phe
ENST00000651234.1:c.4864G>T ENSP00000499046.1:p.Val1622Phe
ENST00000652369.1:c.4864G>T ENSP00000498543.1:p.Val1622Phe
ENST00000379370.6:c.5179G>T ENSP00000368678.2:p.Val1727Phe
ENST00000419249.1:c.74G>T
ENST00000620552.4:c.4765G>T ENSP00000484607.1:p.Val1589Phe
NM_001305275.1:c.5179G>T NP_001292204.1:p.Val1727Phe
NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe
XM_005244749.2:c.5179G>T XP_005244806.1:p.Val1727Phe
XM_006710635.2:c.5179G>T XP_006710698.1:p.Val1727Phe
XM_011541429.1:c.5179G>T XP_011539731.1:p.Val1727Phe
XM_011541430.1:c.4306G>T XP_011539732.1:p.Val1436Phe
XM_011541431.1:c.3445G>T XP_011539733.1:p.Val1149Phe
XR_946650.1:n.5246G>T
NM_001364727.1:c.4864G>T NP_001351656.1:p.Val1622Phe
XM_005244749.3:c.5179G>T XP_005244806.1:p.Val1727Phe
XM_011541429.2:c.5179G>T XP_011539731.1:p.Val1727Phe
XR_946650.2:n.5250G>T
NM_001305275.2:c.5179G>T NP_001292204.1:p.Val1727Phe
NM_198576.4:c.5179G>T MANE Select NP_940978.2:p.Val1727Phe
NM_001364727.2:c.4864G>T NP_001351656.1:p.Val1622Phe
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