Canonical Allele Identifier: CA337836241
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs149814455
gnomAD v2: 1-979594-C-G
gnomAD v4: 1-1044214-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1044214C>G , CM000663.2:g.1044214C>G GRCh38
NC_000001.10:g.979594C>G , CM000663.1:g.979594C>G GRCh37
NC_000001.9:g.969457C>G NCBI36
NG_016346.1:g.29092C>G , LRG_198:g.29092C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.2105C>G MANE Select ENSP00000368678.2:p.Pro702Arg
ENST00000651234.1:c.1790C>G ENSP00000499046.1:p.Pro597Arg
ENST00000652369.1:c.1790C>G ENSP00000498543.1:p.Pro597Arg
ENST00000379370.6:c.2105C>G ENSP00000368678.2:p.Pro702Arg
ENST00000620552.4:c.1691C>G ENSP00000484607.1:p.Pro564Arg
NM_001305275.1:c.2105C>G NP_001292204.1:p.Pro702Arg
NM_198576.3:c.2105C>G NP_940978.2:p.Pro702Arg
XM_005244749.2:c.2105C>G XP_005244806.1:p.Pro702Arg
XM_006710635.2:c.2105C>G XP_006710698.1:p.Pro702Arg
XM_011541429.1:c.2105C>G XP_011539731.1:p.Pro702Arg
XM_011541430.1:c.1232C>G XP_011539732.1:p.Pro411Arg
XM_011541431.1:c.371C>G XP_011539733.1:p.Pro124Arg
XR_946650.1:n.2172C>G
NM_001364727.1:c.1790C>G NP_001351656.1:p.Pro597Arg
XM_005244749.3:c.2105C>G XP_005244806.1:p.Pro702Arg
XM_011541429.2:c.2105C>G XP_011539731.1:p.Pro702Arg
XR_946650.2:n.2176C>G
NM_001305275.2:c.2105C>G NP_001292204.1:p.Pro702Arg
NM_198576.4:c.2105C>G MANE Select NP_940978.2:p.Pro702Arg
NM_001364727.2:c.1790C>G NP_001351656.1:p.Pro597Arg