Canonical Allele Identifier: CA508352
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1359545
ClinVar RCV Id: RCV001904440
dbSNP Id: rs747982009
gnomAD v2: 1-979220-G-A
gnomAD v4: 1-1043840-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1043840G>A , CM000663.2:g.1043840G>A GRCh38
NC_000001.10:g.979220G>A , CM000663.1:g.979220G>A GRCh37
NC_000001.9:g.969083G>A NCBI36
NG_016346.1:g.28718G>A , LRG_198:g.28718G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.1816G>A MANE Select ENSP00000368678.2:p.Val606Met
ENST00000651234.1:c.1501G>A ENSP00000499046.1:p.Val501Met
ENST00000652369.1:c.1501G>A ENSP00000498543.1:p.Val501Met
ENST00000379370.6:c.1816G>A ENSP00000368678.2:p.Val606Met
ENST00000620552.4:c.1402G>A ENSP00000484607.1:p.Val468Met
NM_001305275.1:c.1816G>A NP_001292204.1:p.Val606Met
NM_198576.3:c.1816G>A NP_940978.2:p.Val606Met
XM_005244749.2:c.1816G>A XP_005244806.1:p.Val606Met
XM_006710635.2:c.1816G>A XP_006710698.1:p.Val606Met
XM_011541429.1:c.1816G>A XP_011539731.1:p.Val606Met
XM_011541430.1:c.943G>A XP_011539732.1:p.Val315Met
XM_011541431.1:c.82G>A XP_011539733.1:p.Val28Met
XR_946650.1:n.1883G>A
NM_001364727.1:c.1501G>A NP_001351656.1:p.Val501Met
XM_005244749.3:c.1816G>A XP_005244806.1:p.Val606Met
XM_011541429.2:c.1816G>A XP_011539731.1:p.Val606Met
XR_946650.2:n.1887G>A
NM_001305275.2:c.1816G>A NP_001292204.1:p.Val606Met
NM_198576.4:c.1816G>A MANE Select NP_940978.2:p.Val606Met
NM_001364727.2:c.1501G>A NP_001351656.1:p.Val501Met