Canonical Allele Identifier: CA16609411

Gene: AGRN

Linked Data

• ClinVar Variation Id: 397549
• ClinVar RCV Id: RCV000449559
• dbSNP Id: rs1060499677
• MyVariant Identifiers: chr1:g.987116G>A (hg19) ; chr1:g.1051736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1051736G>A , CM000663.2:g.1051736G>A	GRCh38
NC_000001.10:g.987116G>A , CM000663.1:g.987116G>A	GRCh37
NC_000001.9:g.976979G>A	NCBI36
NG_016346.1:g.36614G>A , LRG_198:g.36614G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.5572G>A MANE Select	ENSP00000368678.2:p.Glu1858Lys
ENST00000651234.1:c.5269G>A	ENSP00000499046.1:p.Glu1757Lys
ENST00000652369.1:c.5257G>A	ENSP00000498543.1:p.Glu1753Lys
ENST00000379370.6:c.5572G>A	ENSP00000368678.2:p.Glu1858Lys
ENST00000419249.1:c.479G>A
ENST00000620552.4:c.5170G>A	ENSP00000484607.1:p.Glu1724Lys
NM_001305275.1:c.5584G>A	NP_001292204.1:p.Glu1862Lys
NM_198576.3:c.5572G>A	NP_940978.2:p.Glu1858Lys
XM_005244749.2:c.5584G>A	XP_005244806.1:p.Glu1862Lys
XM_006710635.2:c.5584G>A	XP_006710698.1:p.Glu1862Lys
XM_011541429.1:c.5584G>A	XP_011539731.1:p.Glu1862Lys
XM_011541430.1:c.4711G>A	XP_011539732.1:p.Glu1571Lys
XM_011541431.1:c.3850G>A	XP_011539733.1:p.Glu1284Lys
XR_946650.1:n.5651G>A
NM_001364727.1:c.5269G>A	NP_001351656.1:p.Glu1757Lys
XM_005244749.3:c.5584G>A	XP_005244806.1:p.Glu1862Lys
XM_011541429.2:c.5584G>A	XP_011539731.1:p.Glu1862Lys
XR_946650.2:n.5655G>A
NM_001305275.2:c.5584G>A	NP_001292204.1:p.Glu1862Lys
NM_198576.4:c.5572G>A MANE Select	NP_940978.2:p.Glu1858Lys
NM_001364727.2:c.5269G>A	NP_001351656.1:p.Glu1757Lys