Canonical Allele Identifier: CA509677

Gene: AGRN

Linked Data

• ClinVar Variation Id: 263190
• ClinVar RCV Id: RCV000245933 ; RCV002058484
• dbSNP Id: rs535286672
• ExAC: 1:985434 T / A
• gnomAD v2: 1-985434-T-A
• gnomAD v3: 1-1050054-T-A
• gnomAD v4: 1-1050054-T-A
• MyVariant Identifiers: chr1:g.985434T>A (hg19) ; chr1:g.1050054T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050054T>A , CM000663.2:g.1050054T>A	GRCh38
NC_000001.10:g.985434T>A , CM000663.1:g.985434T>A	GRCh37
NC_000001.9:g.975297T>A	NCBI36
NG_016346.1:g.34932T>A , LRG_198:g.34932T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.4879+17T>A MANE Select	ENSP00000368678.2:n.4879+17T>A
ENST00000651234.1:c.4564+17T>A	ENSP00000499046.1:n.4564+17T>A
ENST00000652369.1:c.4564+17T>A	ENSP00000498543.1:n.4564+17T>A
ENST00000379370.6:c.4879+17T>A	ENSP00000368678.2:n.4879+17T>A
ENST00000620552.4:c.4465+17T>A	ENSP00000484607.1:n.4465+17T>A
NM_001305275.1:c.4879+17T>A	NP_001292204.1:n.4879+17T>A
NM_198576.3:c.4879+17T>A	NP_940978.2:n.4879+17T>A
XM_005244749.2:c.4879+17T>A	XP_005244806.1:n.4879+17T>A
XM_006710635.2:c.4879+17T>A	XP_006710698.1:n.4879+17T>A
XM_011541429.1:c.4879+17T>A	XP_011539731.1:n.4879+17T>A
XM_011541430.1:c.4006+17T>A	XP_011539732.1:n.4006+17T>A
XM_011541431.1:c.3145+17T>A	XP_011539733.1:n.3145+17T>A
XR_946650.1:n.4946+17T>A
NM_001364727.1:c.4564+17T>A	NP_001351656.1:n.4564+17T>A
XM_005244749.3:c.4879+17T>A	XP_005244806.1:n.4879+17T>A
XM_011541429.2:c.4879+17T>A	XP_011539731.1:n.4879+17T>A
XR_946650.2:n.4950+17T>A
NM_001305275.2:c.4879+17T>A	NP_001292204.1:n.4879+17T>A
NM_198576.4:c.4879+17T>A MANE Select	NP_940978.2:n.4879+17T>A
NM_001364727.2:c.4564+17T>A	NP_001351656.1:n.4564+17T>A