Canonical Allele Identifier: CA16760397

Gene: AGRN

Linked Data

• dbSNP Id: rs865776129
• gnomAD v4: 1-1048302-G-A
• MyVariant Identifiers: chr1:g.983682G>A (hg19) ; chr1:g.1048302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048302G>A , CM000663.2:g.1048302G>A	GRCh38
NC_000001.10:g.983682G>A , CM000663.1:g.983682G>A	GRCh37
NC_000001.9:g.973545G>A	NCBI36
NG_016346.1:g.33180G>A , LRG_198:g.33180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4042G>A MANE Select	ENSP00000368678.2:p.Ala1348Thr
ENST00000651234.1:c.3727G>A	ENSP00000499046.1:p.Ala1243Thr
ENST00000652369.1:c.3727G>A	ENSP00000498543.1:p.Ala1243Thr
ENST00000379370.6:c.4042G>A	ENSP00000368678.2:p.Ala1348Thr
ENST00000620552.4:c.3628G>A	ENSP00000484607.1:p.Ala1210Thr
NM_001305275.1:c.4042G>A	NP_001292204.1:p.Ala1348Thr
NM_198576.3:c.4042G>A	NP_940978.2:p.Ala1348Thr
XM_005244749.2:c.4042G>A	XP_005244806.1:p.Ala1348Thr
XM_006710635.2:c.4042G>A	XP_006710698.1:p.Ala1348Thr
XM_011541429.1:c.4042G>A	XP_011539731.1:p.Ala1348Thr
XM_011541430.1:c.3169G>A	XP_011539732.1:p.Ala1057Thr
XM_011541431.1:c.2308G>A	XP_011539733.1:p.Ala770Thr
XR_946650.1:n.4109G>A
NM_001364727.1:c.3727G>A	NP_001351656.1:p.Ala1243Thr
XM_005244749.3:c.4042G>A	XP_005244806.1:p.Ala1348Thr
XM_011541429.2:c.4042G>A	XP_011539731.1:p.Ala1348Thr
XR_946650.2:n.4113G>A
NM_001305275.2:c.4042G>A	NP_001292204.1:p.Ala1348Thr
NM_198576.4:c.4042G>A MANE Select	NP_940978.2:p.Ala1348Thr
NM_001364727.2:c.3727G>A	NP_001351656.1:p.Ala1243Thr