Canonical Allele Identifier: CA337851979

Gene: AGRN

Linked Data

• dbSNP Id: rs1304665603
• gnomAD v2: 1-983272-T-G
• MyVariant Identifiers: chr1:g.983272T>G (hg19) ; chr1:g.1047892T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047892T>G , CM000663.2:g.1047892T>G	GRCh38
NC_000001.10:g.983272T>G , CM000663.1:g.983272T>G	GRCh37
NC_000001.9:g.973135T>G	NCBI36
NG_016346.1:g.32770T>G , LRG_198:g.32770T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3748T>G MANE Select	ENSP00000368678.2:p.Phe1250Val
ENST00000651234.1:c.3433T>G	ENSP00000499046.1:p.Phe1145Val
ENST00000652369.1:c.3433T>G	ENSP00000498543.1:p.Phe1145Val
ENST00000379370.6:c.3748T>G	ENSP00000368678.2:p.Phe1250Val
ENST00000620552.4:c.3334T>G	ENSP00000484607.1:p.Phe1112Val
NM_001305275.1:c.3748T>G	NP_001292204.1:p.Phe1250Val
NM_198576.3:c.3748T>G	NP_940978.2:p.Phe1250Val
XM_005244749.2:c.3748T>G	XP_005244806.1:p.Phe1250Val
XM_006710635.2:c.3748T>G	XP_006710698.1:p.Phe1250Val
XM_011541429.1:c.3748T>G	XP_011539731.1:p.Phe1250Val
XM_011541430.1:c.2875T>G	XP_011539732.1:p.Phe959Val
XM_011541431.1:c.2014T>G	XP_011539733.1:p.Phe672Val
XR_946650.1:n.3815T>G
NM_001364727.1:c.3433T>G	NP_001351656.1:p.Phe1145Val
XM_005244749.3:c.3748T>G	XP_005244806.1:p.Phe1250Val
XM_011541429.2:c.3748T>G	XP_011539731.1:p.Phe1250Val
XR_946650.2:n.3819T>G
NM_001305275.2:c.3748T>G	NP_001292204.1:p.Phe1250Val
NM_198576.4:c.3748T>G MANE Select	NP_940978.2:p.Phe1250Val
NM_001364727.2:c.3433T>G	NP_001351656.1:p.Phe1145Val