Canonical Allele Identifier: CA337853418

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048317-T-A
• MyVariant Identifiers: chr1:g.983697T>A (hg19) ; chr1:g.1048317T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048317T>A , CM000663.2:g.1048317T>A	GRCh38
NC_000001.10:g.983697T>A , CM000663.1:g.983697T>A	GRCh37
NC_000001.9:g.973560T>A	NCBI36
NG_016346.1:g.33195T>A , LRG_198:g.33195T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4057T>A MANE Select	ENSP00000368678.2:p.Phe1353Ile
ENST00000651234.1:c.3742T>A	ENSP00000499046.1:p.Phe1248Ile
ENST00000652369.1:c.3742T>A	ENSP00000498543.1:p.Phe1248Ile
ENST00000379370.6:c.4057T>A	ENSP00000368678.2:p.Phe1353Ile
ENST00000620552.4:c.3643T>A	ENSP00000484607.1:p.Phe1215Ile
NM_001305275.1:c.4057T>A	NP_001292204.1:p.Phe1353Ile
NM_198576.3:c.4057T>A	NP_940978.2:p.Phe1353Ile
XM_005244749.2:c.4057T>A	XP_005244806.1:p.Phe1353Ile
XM_006710635.2:c.4057T>A	XP_006710698.1:p.Phe1353Ile
XM_011541429.1:c.4057T>A	XP_011539731.1:p.Phe1353Ile
XM_011541430.1:c.3184T>A	XP_011539732.1:p.Phe1062Ile
XM_011541431.1:c.2323T>A	XP_011539733.1:p.Phe775Ile
XR_946650.1:n.4124T>A
NM_001364727.1:c.3742T>A	NP_001351656.1:p.Phe1248Ile
XM_005244749.3:c.4057T>A	XP_005244806.1:p.Phe1353Ile
XM_011541429.2:c.4057T>A	XP_011539731.1:p.Phe1353Ile
XR_946650.2:n.4128T>A
NM_001305275.2:c.4057T>A	NP_001292204.1:p.Phe1353Ile
NM_198576.4:c.4057T>A MANE Select	NP_940978.2:p.Phe1353Ile
NM_001364727.2:c.3742T>A	NP_001351656.1:p.Phe1248Ile