Canonical Allele Identifier: CA337851399

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1509636
• ClinVar RCV Id: RCV002018052
• dbSNP Id: rs528146665
• gnomAD v4: 1-1047829-G-A
• MyVariant Identifiers: chr1:g.983209G>A (hg19) ; chr1:g.1047829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047829G>A , CM000663.2:g.1047829G>A	GRCh38
NC_000001.10:g.983209G>A , CM000663.1:g.983209G>A	GRCh37
NC_000001.9:g.973072G>A	NCBI36
NG_016346.1:g.32707G>A , LRG_198:g.32707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3685G>A MANE Select	ENSP00000368678.2:p.Val1229Met
ENST00000651234.1:c.3370G>A	ENSP00000499046.1:p.Val1124Met
ENST00000652369.1:c.3370G>A	ENSP00000498543.1:p.Val1124Met
ENST00000379370.6:c.3685G>A	ENSP00000368678.2:p.Val1229Met
ENST00000466223.1:n.423G>A
ENST00000478677.1:n.267G>A
ENST00000620552.4:c.3271G>A	ENSP00000484607.1:p.Val1091Met
NM_001305275.1:c.3685G>A	NP_001292204.1:p.Val1229Met
NM_198576.3:c.3685G>A	NP_940978.2:p.Val1229Met
XM_005244749.2:c.3685G>A	XP_005244806.1:p.Val1229Met
XM_006710635.2:c.3685G>A	XP_006710698.1:p.Val1229Met
XM_011541429.1:c.3685G>A	XP_011539731.1:p.Val1229Met
XM_011541430.1:c.2812G>A	XP_011539732.1:p.Val938Met
XM_011541431.1:c.1951G>A	XP_011539733.1:p.Val651Met
XR_946650.1:n.3752G>A
NM_001364727.1:c.3370G>A	NP_001351656.1:p.Val1124Met
XM_005244749.3:c.3685G>A	XP_005244806.1:p.Val1229Met
XM_011541429.2:c.3685G>A	XP_011539731.1:p.Val1229Met
XR_946650.2:n.3756G>A
NM_001305275.2:c.3685G>A	NP_001292204.1:p.Val1229Met
NM_198576.4:c.3685G>A MANE Select	NP_940978.2:p.Val1229Met
NM_001364727.2:c.3370G>A	NP_001351656.1:p.Val1124Met