Canonical Allele Identifier: CA337835577
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1043990-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1043990A>T , CM000663.2:g.1043990A>T GRCh38
NC_000001.10:g.979370A>T , CM000663.1:g.979370A>T GRCh37
NC_000001.9:g.969233A>T NCBI36
NG_016346.1:g.28868A>T , LRG_198:g.28868A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.1966A>T MANE Select ENSP00000368678.2:p.Ile656Phe
ENST00000651234.1:c.1651A>T ENSP00000499046.1:p.Ile551Phe
ENST00000652369.1:c.1651A>T ENSP00000498543.1:p.Ile551Phe
ENST00000379370.6:c.1966A>T ENSP00000368678.2:p.Ile656Phe
ENST00000620552.4:c.1552A>T ENSP00000484607.1:p.Ile518Phe
NM_001305275.1:c.1966A>T NP_001292204.1:p.Ile656Phe
NM_198576.3:c.1966A>T NP_940978.2:p.Ile656Phe
XM_005244749.2:c.1966A>T XP_005244806.1:p.Ile656Phe
XM_006710635.2:c.1966A>T XP_006710698.1:p.Ile656Phe
XM_011541429.1:c.1966A>T XP_011539731.1:p.Ile656Phe
XM_011541430.1:c.1093A>T XP_011539732.1:p.Ile365Phe
XM_011541431.1:c.232A>T XP_011539733.1:p.Ile78Phe
XR_946650.1:n.2033A>T
NM_001364727.1:c.1651A>T NP_001351656.1:p.Ile551Phe
XM_005244749.3:c.1966A>T XP_005244806.1:p.Ile656Phe
XM_011541429.2:c.1966A>T XP_011539731.1:p.Ile656Phe
XR_946650.2:n.2037A>T
NM_001305275.2:c.1966A>T NP_001292204.1:p.Ile656Phe
NM_198576.4:c.1966A>T MANE Select NP_940978.2:p.Ile656Phe
NM_001364727.2:c.1651A>T NP_001351656.1:p.Ile551Phe