Canonical Allele Identifier: CA509203

Gene: AGRN

Linked Data

• dbSNP Id: rs752746538
• ExAC: 1:983257 G / A
• gnomAD v2: 1-983257-G-A
• gnomAD v3: 1-1047877-G-A
• gnomAD v4: 1-1047877-G-A
• MyVariant Identifiers: chr1:g.983257G>A (hg19) ; chr1:g.1047877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047877G>A , CM000663.2:g.1047877G>A	GRCh38
NC_000001.10:g.983257G>A , CM000663.1:g.983257G>A	GRCh37
NC_000001.9:g.973120G>A	NCBI36
NG_016346.1:g.32755G>A , LRG_198:g.32755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3733G>A MANE Select	ENSP00000368678.2:p.Val1245Met
ENST00000651234.1:c.3418G>A	ENSP00000499046.1:p.Val1140Met
ENST00000652369.1:c.3418G>A	ENSP00000498543.1:p.Val1140Met
ENST00000379370.6:c.3733G>A	ENSP00000368678.2:p.Val1245Met
ENST00000620552.4:c.3319G>A	ENSP00000484607.1:p.Val1107Met
NM_001305275.1:c.3733G>A	NP_001292204.1:p.Val1245Met
NM_198576.3:c.3733G>A	NP_940978.2:p.Val1245Met
XM_005244749.2:c.3733G>A	XP_005244806.1:p.Val1245Met
XM_006710635.2:c.3733G>A	XP_006710698.1:p.Val1245Met
XM_011541429.1:c.3733G>A	XP_011539731.1:p.Val1245Met
XM_011541430.1:c.2860G>A	XP_011539732.1:p.Val954Met
XM_011541431.1:c.1999G>A	XP_011539733.1:p.Val667Met
XR_946650.1:n.3800G>A
NM_001364727.1:c.3418G>A	NP_001351656.1:p.Val1140Met
XM_005244749.3:c.3733G>A	XP_005244806.1:p.Val1245Met
XM_011541429.2:c.3733G>A	XP_011539731.1:p.Val1245Met
XR_946650.2:n.3804G>A
NM_001305275.2:c.3733G>A	NP_001292204.1:p.Val1245Met
NM_198576.4:c.3733G>A MANE Select	NP_940978.2:p.Val1245Met
NM_001364727.2:c.3418G>A	NP_001351656.1:p.Val1140Met