Canonical Allele Identifier: CA337851226

Gene: AGRN

Linked Data

• dbSNP Id: rs1476088193
• gnomAD v2: 1-983170-G-A
• gnomAD v3: 1-1047790-G-A
• gnomAD v4: 1-1047790-G-A
• MyVariant Identifiers: chr1:g.983170G>A (hg19) ; chr1:g.1047790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047790G>A , CM000663.2:g.1047790G>A	GRCh38
NC_000001.10:g.983170G>A , CM000663.1:g.983170G>A	GRCh37
NC_000001.9:g.973033G>A	NCBI36
NG_016346.1:g.32668G>A , LRG_198:g.32668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3646G>A MANE Select	ENSP00000368678.2:p.Ala1216Thr
ENST00000651234.1:c.3331G>A	ENSP00000499046.1:p.Ala1111Thr
ENST00000652369.1:c.3331G>A	ENSP00000498543.1:p.Ala1111Thr
ENST00000379370.6:c.3646G>A	ENSP00000368678.2:p.Ala1216Thr
ENST00000466223.1:n.384G>A
ENST00000478677.1:n.228G>A
ENST00000620552.4:c.3232G>A	ENSP00000484607.1:p.Ala1078Thr
NM_001305275.1:c.3646G>A	NP_001292204.1:p.Ala1216Thr
NM_198576.3:c.3646G>A	NP_940978.2:p.Ala1216Thr
XM_005244749.2:c.3646G>A	XP_005244806.1:p.Ala1216Thr
XM_006710635.2:c.3646G>A	XP_006710698.1:p.Ala1216Thr
XM_011541429.1:c.3646G>A	XP_011539731.1:p.Ala1216Thr
XM_011541430.1:c.2773G>A	XP_011539732.1:p.Ala925Thr
XM_011541431.1:c.1912G>A	XP_011539733.1:p.Ala638Thr
XR_946650.1:n.3713G>A
NM_001364727.1:c.3331G>A	NP_001351656.1:p.Ala1111Thr
XM_005244749.3:c.3646G>A	XP_005244806.1:p.Ala1216Thr
XM_011541429.2:c.3646G>A	XP_011539731.1:p.Ala1216Thr
XR_946650.2:n.3717G>A
NM_001305275.2:c.3646G>A	NP_001292204.1:p.Ala1216Thr
NM_198576.4:c.3646G>A MANE Select	NP_940978.2:p.Ala1216Thr
NM_001364727.2:c.3331G>A	NP_001351656.1:p.Ala1111Thr