Canonical Allele Identifier: CA151669

Gene: AGRN

Linked Data

• ClinVar Variation Id: 128312
• ClinVar RCV Id: RCV000116274 ; RCV000543394
• dbSNP Id: rs17160775
• ExAC: 1:985826 G / A
• gnomAD v2: 1-985826-G-A
• gnomAD v3: 1-1050446-G-A
• gnomAD v4: 1-1050446-G-A
• MyVariant Identifiers: chr1:g.985826G>A (hg19) ; chr1:g.1050446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050446G>A , CM000663.2:g.1050446G>A	GRCh38
NC_000001.10:g.985826G>A , CM000663.1:g.985826G>A	GRCh37
NC_000001.9:g.975689G>A	NCBI36
NG_016346.1:g.35324G>A , LRG_198:g.35324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4996G>A MANE Select	ENSP00000368678.2:p.Val1666Ile
ENST00000651234.1:c.4681G>A	ENSP00000499046.1:p.Val1561Ile
ENST00000652369.1:c.4681G>A	ENSP00000498543.1:p.Val1561Ile
ENST00000379370.6:c.4996G>A	ENSP00000368678.2:p.Val1666Ile
ENST00000620552.4:c.4582G>A	ENSP00000484607.1:p.Val1528Ile
NM_001305275.1:c.4996G>A	NP_001292204.1:p.Val1666Ile
NM_198576.3:c.4996G>A	NP_940978.2:p.Val1666Ile
XM_005244749.2:c.4996G>A	XP_005244806.1:p.Val1666Ile
XM_006710635.2:c.4996G>A	XP_006710698.1:p.Val1666Ile
XM_011541429.1:c.4996G>A	XP_011539731.1:p.Val1666Ile
XM_011541430.1:c.4123G>A	XP_011539732.1:p.Val1375Ile
XM_011541431.1:c.3262G>A	XP_011539733.1:p.Val1088Ile
XR_946650.1:n.5063G>A
NM_001364727.1:c.4681G>A	NP_001351656.1:p.Val1561Ile
XM_005244749.3:c.4996G>A	XP_005244806.1:p.Val1666Ile
XM_011541429.2:c.4996G>A	XP_011539731.1:p.Val1666Ile
XR_946650.2:n.5067G>A
NM_001305275.2:c.4996G>A	NP_001292204.1:p.Val1666Ile
NM_198576.4:c.4996G>A MANE Select	NP_940978.2:p.Val1666Ile
NM_001364727.2:c.4681G>A	NP_001351656.1:p.Val1561Ile