Canonical Allele Identifier: CA337852970

Gene: AGRN

Linked Data

• dbSNP Id: rs1392350160
• gnomAD v2: 1-983544-A-G
• gnomAD v4: 1-1048164-A-G
• MyVariant Identifiers: chr1:g.983544A>G (hg19) ; chr1:g.1048164A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048164A>G , CM000663.2:g.1048164A>G	GRCh38
NC_000001.10:g.983544A>G , CM000663.1:g.983544A>G	GRCh37
NC_000001.9:g.973407A>G	NCBI36
NG_016346.1:g.33042A>G , LRG_198:g.33042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3904A>G MANE Select	ENSP00000368678.2:p.Thr1302Ala
ENST00000651234.1:c.3589A>G	ENSP00000499046.1:p.Thr1197Ala
ENST00000652369.1:c.3589A>G	ENSP00000498543.1:p.Thr1197Ala
ENST00000379370.6:c.3904A>G	ENSP00000368678.2:p.Thr1302Ala
ENST00000620552.4:c.3490A>G	ENSP00000484607.1:p.Thr1164Ala
NM_001305275.1:c.3904A>G	NP_001292204.1:p.Thr1302Ala
NM_198576.3:c.3904A>G	NP_940978.2:p.Thr1302Ala
XM_005244749.2:c.3904A>G	XP_005244806.1:p.Thr1302Ala
XM_006710635.2:c.3904A>G	XP_006710698.1:p.Thr1302Ala
XM_011541429.1:c.3904A>G	XP_011539731.1:p.Thr1302Ala
XM_011541430.1:c.3031A>G	XP_011539732.1:p.Thr1011Ala
XM_011541431.1:c.2170A>G	XP_011539733.1:p.Thr724Ala
XR_946650.1:n.3971A>G
NM_001364727.1:c.3589A>G	NP_001351656.1:p.Thr1197Ala
XM_005244749.3:c.3904A>G	XP_005244806.1:p.Thr1302Ala
XM_011541429.2:c.3904A>G	XP_011539731.1:p.Thr1302Ala
XR_946650.2:n.3975A>G
NM_001305275.2:c.3904A>G	NP_001292204.1:p.Thr1302Ala
NM_198576.4:c.3904A>G MANE Select	NP_940978.2:p.Thr1302Ala
NM_001364727.2:c.3589A>G	NP_001351656.1:p.Thr1197Ala