Canonical Allele Identifier: CA508453

Gene: AGRN

Linked Data

• dbSNP Id: rs141085875
• ExAC: 1:979551 C / A
• gnomAD v2: 1-979551-C-A
• gnomAD v4: 1-1044171-C-A
• MyVariant Identifiers: chr1:g.979551C>A (hg19) ; chr1:g.1044171C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044171C>A , CM000663.2:g.1044171C>A	GRCh38
NC_000001.10:g.979551C>A , CM000663.1:g.979551C>A	GRCh37
NC_000001.9:g.969414C>A	NCBI36
NG_016346.1:g.29049C>A , LRG_198:g.29049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2062C>A MANE Select	ENSP00000368678.2:p.Arg688=
ENST00000651234.1:c.1747C>A	ENSP00000499046.1:p.Arg583=
ENST00000652369.1:c.1747C>A	ENSP00000498543.1:p.Arg583=
ENST00000379370.6:c.2062C>A	ENSP00000368678.2:p.Arg688=
ENST00000620552.4:c.1648C>A	ENSP00000484607.1:p.Arg550=
NM_001305275.1:c.2062C>A	NP_001292204.1:p.Arg688=
NM_198576.3:c.2062C>A	NP_940978.2:p.Arg688=
XM_005244749.2:c.2062C>A	XP_005244806.1:p.Arg688=
XM_006710635.2:c.2062C>A	XP_006710698.1:p.Arg688=
XM_011541429.1:c.2062C>A	XP_011539731.1:p.Arg688=
XM_011541430.1:c.1189C>A	XP_011539732.1:p.Arg397=
XM_011541431.1:c.328C>A	XP_011539733.1:p.Arg110=
XR_946650.1:n.2129C>A
NM_001364727.1:c.1747C>A	NP_001351656.1:p.Arg583=
XM_005244749.3:c.2062C>A	XP_005244806.1:p.Arg688=
XM_011541429.2:c.2062C>A	XP_011539731.1:p.Arg688=
XR_946650.2:n.2133C>A
NM_001305275.2:c.2062C>A	NP_001292204.1:p.Arg688=
NM_198576.4:c.2062C>A MANE Select	NP_940978.2:p.Arg688=
NM_001364727.2:c.1747C>A	NP_001351656.1:p.Arg583=