Canonical Allele Identifier: CA337851291

Gene: AGRN

Linked Data

• gnomAD v4: 1-1047809-C-T
• MyVariant Identifiers: chr1:g.983189C>T (hg19) ; chr1:g.1047809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047809C>T , CM000663.2:g.1047809C>T	GRCh38
NC_000001.10:g.983189C>T , CM000663.1:g.983189C>T	GRCh37
NC_000001.9:g.973052C>T	NCBI36
NG_016346.1:g.32687C>T , LRG_198:g.32687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3665C>T MANE Select	ENSP00000368678.2:p.Ala1222Val
ENST00000651234.1:c.3350C>T	ENSP00000499046.1:p.Ala1117Val
ENST00000652369.1:c.3350C>T	ENSP00000498543.1:p.Ala1117Val
ENST00000379370.6:c.3665C>T	ENSP00000368678.2:p.Ala1222Val
ENST00000466223.1:n.403C>T
ENST00000478677.1:n.247C>T
ENST00000620552.4:c.3251C>T	ENSP00000484607.1:p.Ala1084Val
NM_001305275.1:c.3665C>T	NP_001292204.1:p.Ala1222Val
NM_198576.3:c.3665C>T	NP_940978.2:p.Ala1222Val
XM_005244749.2:c.3665C>T	XP_005244806.1:p.Ala1222Val
XM_006710635.2:c.3665C>T	XP_006710698.1:p.Ala1222Val
XM_011541429.1:c.3665C>T	XP_011539731.1:p.Ala1222Val
XM_011541430.1:c.2792C>T	XP_011539732.1:p.Ala931Val
XM_011541431.1:c.1931C>T	XP_011539733.1:p.Ala644Val
XR_946650.1:n.3732C>T
NM_001364727.1:c.3350C>T	NP_001351656.1:p.Ala1117Val
XM_005244749.3:c.3665C>T	XP_005244806.1:p.Ala1222Val
XM_011541429.2:c.3665C>T	XP_011539731.1:p.Ala1222Val
XR_946650.2:n.3736C>T
NM_001305275.2:c.3665C>T	NP_001292204.1:p.Ala1222Val
NM_198576.4:c.3665C>T MANE Select	NP_940978.2:p.Ala1222Val
NM_001364727.2:c.3350C>T	NP_001351656.1:p.Ala1117Val