Canonical Allele Identifier: CA509585

Gene: AGRN

Linked Data

• ClinVar Variation Id: 661322
• ClinVar RCV Id: RCV000818714 ; RCV003243341
• dbSNP Id: rs376043332
• ExAC: 1:985172 G / A
• gnomAD v2: 1-985172-G-A
• gnomAD v3: 1-1049792-G-A
• gnomAD v4: 1-1049792-G-A
• MyVariant Identifiers: chr1:g.985172G>A (hg19) ; chr1:g.1049792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049792G>A , CM000663.2:g.1049792G>A	GRCh38
NC_000001.10:g.985172G>A , CM000663.1:g.985172G>A	GRCh37
NC_000001.9:g.975035G>A	NCBI36
NG_016346.1:g.34670G>A , LRG_198:g.34670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4741G>A MANE Select	ENSP00000368678.2:p.Val1581Ile
ENST00000651234.1:c.4426G>A	ENSP00000499046.1:p.Val1476Ile
ENST00000652369.1:c.4426G>A	ENSP00000498543.1:p.Val1476Ile
ENST00000379370.6:c.4741G>A	ENSP00000368678.2:p.Val1581Ile
ENST00000620552.4:c.4327G>A	ENSP00000484607.1:p.Val1443Ile
NM_001305275.1:c.4741G>A	NP_001292204.1:p.Val1581Ile
NM_198576.3:c.4741G>A	NP_940978.2:p.Val1581Ile
XM_005244749.2:c.4741G>A	XP_005244806.1:p.Val1581Ile
XM_006710635.2:c.4741G>A	XP_006710698.1:p.Val1581Ile
XM_011541429.1:c.4741G>A	XP_011539731.1:p.Val1581Ile
XM_011541430.1:c.3868G>A	XP_011539732.1:p.Val1290Ile
XM_011541431.1:c.3007G>A	XP_011539733.1:p.Val1003Ile
XR_946650.1:n.4808G>A
NM_001364727.1:c.4426G>A	NP_001351656.1:p.Val1476Ile
XM_005244749.3:c.4741G>A	XP_005244806.1:p.Val1581Ile
XM_011541429.2:c.4741G>A	XP_011539731.1:p.Val1581Ile
XR_946650.2:n.4812G>A
NM_001305275.2:c.4741G>A	NP_001292204.1:p.Val1581Ile
NM_198576.4:c.4741G>A MANE Select	NP_940978.2:p.Val1581Ile
NM_001364727.2:c.4426G>A	NP_001351656.1:p.Val1476Ile