Canonical Allele Identifier: CA337853017
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1048174-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048174C>T , CM000663.2:g.1048174C>T GRCh38
NC_000001.10:g.983554C>T , CM000663.1:g.983554C>T GRCh37
NC_000001.9:g.973417C>T NCBI36
NG_016346.1:g.33052C>T , LRG_198:g.33052C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3914C>T MANE Select ENSP00000368678.2:p.Pro1305Leu
ENST00000651234.1:c.3599C>T ENSP00000499046.1:p.Pro1200Leu
ENST00000652369.1:c.3599C>T ENSP00000498543.1:p.Pro1200Leu
ENST00000379370.6:c.3914C>T ENSP00000368678.2:p.Pro1305Leu
ENST00000620552.4:c.3500C>T ENSP00000484607.1:p.Pro1167Leu
NM_001305275.1:c.3914C>T NP_001292204.1:p.Pro1305Leu
NM_198576.3:c.3914C>T NP_940978.2:p.Pro1305Leu
XM_005244749.2:c.3914C>T XP_005244806.1:p.Pro1305Leu
XM_006710635.2:c.3914C>T XP_006710698.1:p.Pro1305Leu
XM_011541429.1:c.3914C>T XP_011539731.1:p.Pro1305Leu
XM_011541430.1:c.3041C>T XP_011539732.1:p.Pro1014Leu
XM_011541431.1:c.2180C>T XP_011539733.1:p.Pro727Leu
XR_946650.1:n.3981C>T
NM_001364727.1:c.3599C>T NP_001351656.1:p.Pro1200Leu
XM_005244749.3:c.3914C>T XP_005244806.1:p.Pro1305Leu
XM_011541429.2:c.3914C>T XP_011539731.1:p.Pro1305Leu
XR_946650.2:n.3985C>T
NM_001305275.2:c.3914C>T NP_001292204.1:p.Pro1305Leu
NM_198576.4:c.3914C>T MANE Select NP_940978.2:p.Pro1305Leu
NM_001364727.2:c.3599C>T NP_001351656.1:p.Pro1200Leu