Canonical Allele Identifier: CA508362

Gene: AGRN

Linked Data

• ClinVar Variation Id: 541147
• ClinVar RCV Id: RCV000651355 ; RCV000761625
• dbSNP Id: rs140789461
• ExAC: 1:979269 G / A
• gnomAD v2: 1-979269-G-A
• gnomAD v3: 1-1043889-G-A
• gnomAD v4: 1-1043889-G-A
• MyVariant Identifiers: chr1:g.979269G>A (hg19) ; chr1:g.1043889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043889G>A , CM000663.2:g.1043889G>A	GRCh38
NC_000001.10:g.979269G>A , CM000663.1:g.979269G>A	GRCh37
NC_000001.9:g.969132G>A	NCBI36
NG_016346.1:g.28767G>A , LRG_198:g.28767G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.1865G>A MANE Select	ENSP00000368678.2:p.Arg622Gln
ENST00000651234.1:c.1550G>A	ENSP00000499046.1:p.Arg517Gln
ENST00000652369.1:c.1550G>A	ENSP00000498543.1:p.Arg517Gln
ENST00000379370.6:c.1865G>A	ENSP00000368678.2:p.Arg622Gln
ENST00000620552.4:c.1451G>A	ENSP00000484607.1:p.Arg484Gln
NM_001305275.1:c.1865G>A	NP_001292204.1:p.Arg622Gln
NM_198576.3:c.1865G>A	NP_940978.2:p.Arg622Gln
XM_005244749.2:c.1865G>A	XP_005244806.1:p.Arg622Gln
XM_006710635.2:c.1865G>A	XP_006710698.1:p.Arg622Gln
XM_011541429.1:c.1865G>A	XP_011539731.1:p.Arg622Gln
XM_011541430.1:c.992G>A	XP_011539732.1:p.Arg331Gln
XM_011541431.1:c.131G>A	XP_011539733.1:p.Arg44Gln
XR_946650.1:n.1932G>A
NM_001364727.1:c.1550G>A	NP_001351656.1:p.Arg517Gln
XM_005244749.3:c.1865G>A	XP_005244806.1:p.Arg622Gln
XM_011541429.2:c.1865G>A	XP_011539731.1:p.Arg622Gln
XR_946650.2:n.1936G>A
NM_001305275.2:c.1865G>A	NP_001292204.1:p.Arg622Gln
NM_198576.4:c.1865G>A MANE Select	NP_940978.2:p.Arg622Gln
NM_001364727.2:c.1550G>A	NP_001351656.1:p.Arg517Gln