Canonical Allele Identifier: CA337851565

Gene: AGRN

Linked Data

• gnomAD v4: 1-1047853-G-A
• MyVariant Identifiers: chr1:g.983233G>A (hg19) ; chr1:g.1047853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047853G>A , CM000663.2:g.1047853G>A	GRCh38
NC_000001.10:g.983233G>A , CM000663.1:g.983233G>A	GRCh37
NC_000001.9:g.973096G>A	NCBI36
NG_016346.1:g.32731G>A , LRG_198:g.32731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3709G>A MANE Select	ENSP00000368678.2:p.Val1237Met
ENST00000651234.1:c.3394G>A	ENSP00000499046.1:p.Val1132Met
ENST00000652369.1:c.3394G>A	ENSP00000498543.1:p.Val1132Met
ENST00000379370.6:c.3709G>A	ENSP00000368678.2:p.Val1237Met
ENST00000466223.1:n.447G>A
ENST00000620552.4:c.3295G>A	ENSP00000484607.1:p.Val1099Met
NM_001305275.1:c.3709G>A	NP_001292204.1:p.Val1237Met
NM_198576.3:c.3709G>A	NP_940978.2:p.Val1237Met
XM_005244749.2:c.3709G>A	XP_005244806.1:p.Val1237Met
XM_006710635.2:c.3709G>A	XP_006710698.1:p.Val1237Met
XM_011541429.1:c.3709G>A	XP_011539731.1:p.Val1237Met
XM_011541430.1:c.2836G>A	XP_011539732.1:p.Val946Met
XM_011541431.1:c.1975G>A	XP_011539733.1:p.Val659Met
XR_946650.1:n.3776G>A
NM_001364727.1:c.3394G>A	NP_001351656.1:p.Val1132Met
XM_005244749.3:c.3709G>A	XP_005244806.1:p.Val1237Met
XM_011541429.2:c.3709G>A	XP_011539731.1:p.Val1237Met
XR_946650.2:n.3780G>A
NM_001305275.2:c.3709G>A	NP_001292204.1:p.Val1237Met
NM_198576.4:c.3709G>A MANE Select	NP_940978.2:p.Val1237Met
NM_001364727.2:c.3394G>A	NP_001351656.1:p.Val1132Met