Canonical Allele Identifier: CA337834747

Gene: AGRN

Linked Data

• dbSNP Id: rs1320843935
• gnomAD v2: 1-979260-T-A
• gnomAD v3: 1-1043880-T-A
• gnomAD v4: 1-1043880-T-A
• MyVariant Identifiers: chr1:g.979260T>A (hg19) ; chr1:g.1043880T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043880T>A , CM000663.2:g.1043880T>A	GRCh38
NC_000001.10:g.979260T>A , CM000663.1:g.979260T>A	GRCh37
NC_000001.9:g.969123T>A	NCBI36
NG_016346.1:g.28758T>A , LRG_198:g.28758T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1856T>A MANE Select	ENSP00000368678.2:p.Val619Glu
ENST00000651234.1:c.1541T>A	ENSP00000499046.1:p.Val514Glu
ENST00000652369.1:c.1541T>A	ENSP00000498543.1:p.Val514Glu
ENST00000379370.6:c.1856T>A	ENSP00000368678.2:p.Val619Glu
ENST00000620552.4:c.1442T>A	ENSP00000484607.1:p.Val481Glu
NM_001305275.1:c.1856T>A	NP_001292204.1:p.Val619Glu
NM_198576.3:c.1856T>A	NP_940978.2:p.Val619Glu
XM_005244749.2:c.1856T>A	XP_005244806.1:p.Val619Glu
XM_006710635.2:c.1856T>A	XP_006710698.1:p.Val619Glu
XM_011541429.1:c.1856T>A	XP_011539731.1:p.Val619Glu
XM_011541430.1:c.983T>A	XP_011539732.1:p.Val328Glu
XM_011541431.1:c.122T>A	XP_011539733.1:p.Val41Glu
XR_946650.1:n.1923T>A
NM_001364727.1:c.1541T>A	NP_001351656.1:p.Val514Glu
XM_005244749.3:c.1856T>A	XP_005244806.1:p.Val619Glu
XM_011541429.2:c.1856T>A	XP_011539731.1:p.Val619Glu
XR_946650.2:n.1927T>A
NM_001305275.2:c.1856T>A	NP_001292204.1:p.Val619Glu
NM_198576.4:c.1856T>A MANE Select	NP_940978.2:p.Val619Glu
NM_001364727.2:c.1541T>A	NP_001351656.1:p.Val514Glu