Canonical Allele Identifier: CA337852777

Gene: AGRN

Linked Data

• dbSNP Id: rs758792323
• gnomAD v2: 1-983509-A-G
• gnomAD v4: 1-1048129-A-G
• MyVariant Identifiers: chr1:g.983509A>G (hg19) ; chr1:g.1048129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048129A>G , CM000663.2:g.1048129A>G	GRCh38
NC_000001.10:g.983509A>G , CM000663.1:g.983509A>G	GRCh37
NC_000001.9:g.973372A>G	NCBI36
NG_016346.1:g.33007A>G , LRG_198:g.33007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3869A>G MANE Select	ENSP00000368678.2:p.His1290Arg
ENST00000651234.1:c.3554A>G	ENSP00000499046.1:p.His1185Arg
ENST00000652369.1:c.3554A>G	ENSP00000498543.1:p.His1185Arg
ENST00000379370.6:c.3869A>G	ENSP00000368678.2:p.His1290Arg
ENST00000620552.4:c.3455A>G	ENSP00000484607.1:p.His1152Arg
NM_001305275.1:c.3869A>G	NP_001292204.1:p.His1290Arg
NM_198576.3:c.3869A>G	NP_940978.2:p.His1290Arg
XM_005244749.2:c.3869A>G	XP_005244806.1:p.His1290Arg
XM_006710635.2:c.3869A>G	XP_006710698.1:p.His1290Arg
XM_011541429.1:c.3869A>G	XP_011539731.1:p.His1290Arg
XM_011541430.1:c.2996A>G	XP_011539732.1:p.His999Arg
XM_011541431.1:c.2135A>G	XP_011539733.1:p.His712Arg
XR_946650.1:n.3936A>G
NM_001364727.1:c.3554A>G	NP_001351656.1:p.His1185Arg
XM_005244749.3:c.3869A>G	XP_005244806.1:p.His1290Arg
XM_011541429.2:c.3869A>G	XP_011539731.1:p.His1290Arg
XR_946650.2:n.3940A>G
NM_001305275.2:c.3869A>G	NP_001292204.1:p.His1290Arg
NM_198576.4:c.3869A>G MANE Select	NP_940978.2:p.His1290Arg
NM_001364727.2:c.3554A>G	NP_001351656.1:p.His1185Arg