Canonical Allele Identifier: CA337835684

Gene: AGRN

Linked Data

• gnomAD v4: 1-1044015-G-T
• MyVariant Identifiers: chr1:g.979395G>T (hg19) ; chr1:g.1044015G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044015G>T , CM000663.2:g.1044015G>T	GRCh38
NC_000001.10:g.979395G>T , CM000663.1:g.979395G>T	GRCh37
NC_000001.9:g.969258G>T	NCBI36
NG_016346.1:g.28893G>T , LRG_198:g.28893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1991G>T MANE Select	ENSP00000368678.2:p.Cys664Phe
ENST00000651234.1:c.1676G>T	ENSP00000499046.1:p.Cys559Phe
ENST00000652369.1:c.1676G>T	ENSP00000498543.1:p.Cys559Phe
ENST00000379370.6:c.1991G>T	ENSP00000368678.2:p.Cys664Phe
ENST00000620552.4:c.1577G>T	ENSP00000484607.1:p.Cys526Phe
NM_001305275.1:c.1991G>T	NP_001292204.1:p.Cys664Phe
NM_198576.3:c.1991G>T	NP_940978.2:p.Cys664Phe
XM_005244749.2:c.1991G>T	XP_005244806.1:p.Cys664Phe
XM_006710635.2:c.1991G>T	XP_006710698.1:p.Cys664Phe
XM_011541429.1:c.1991G>T	XP_011539731.1:p.Cys664Phe
XM_011541430.1:c.1118G>T	XP_011539732.1:p.Cys373Phe
XM_011541431.1:c.257G>T	XP_011539733.1:p.Cys86Phe
XR_946650.1:n.2058G>T
NM_001364727.1:c.1676G>T	NP_001351656.1:p.Cys559Phe
XM_005244749.3:c.1991G>T	XP_005244806.1:p.Cys664Phe
XM_011541429.2:c.1991G>T	XP_011539731.1:p.Cys664Phe
XR_946650.2:n.2062G>T
NM_001305275.2:c.1991G>T	NP_001292204.1:p.Cys664Phe
NM_198576.4:c.1991G>T MANE Select	NP_940978.2:p.Cys664Phe
NM_001364727.2:c.1676G>T	NP_001351656.1:p.Cys559Phe