Canonical Allele Identifier: CA337835603

Gene: AGRN

Linked Data

• dbSNP Id: rs1205225964
• gnomAD v2: 1-979376-G-C
• gnomAD v4: 1-1043996-G-C
• MyVariant Identifiers: chr1:g.979376G>C (hg19) ; chr1:g.1043996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043996G>C , CM000663.2:g.1043996G>C	GRCh38
NC_000001.10:g.979376G>C , CM000663.1:g.979376G>C	GRCh37
NC_000001.9:g.969239G>C	NCBI36
NG_016346.1:g.28874G>C , LRG_198:g.28874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1972G>C MANE Select	ENSP00000368678.2:p.Glu658Gln
ENST00000651234.1:c.1657G>C	ENSP00000499046.1:p.Glu553Gln
ENST00000652369.1:c.1657G>C	ENSP00000498543.1:p.Glu553Gln
ENST00000379370.6:c.1972G>C	ENSP00000368678.2:p.Glu658Gln
ENST00000620552.4:c.1558G>C	ENSP00000484607.1:p.Glu520Gln
NM_001305275.1:c.1972G>C	NP_001292204.1:p.Glu658Gln
NM_198576.3:c.1972G>C	NP_940978.2:p.Glu658Gln
XM_005244749.2:c.1972G>C	XP_005244806.1:p.Glu658Gln
XM_006710635.2:c.1972G>C	XP_006710698.1:p.Glu658Gln
XM_011541429.1:c.1972G>C	XP_011539731.1:p.Glu658Gln
XM_011541430.1:c.1099G>C	XP_011539732.1:p.Glu367Gln
XM_011541431.1:c.238G>C	XP_011539733.1:p.Glu80Gln
XR_946650.1:n.2039G>C
NM_001364727.1:c.1657G>C	NP_001351656.1:p.Glu553Gln
XM_005244749.3:c.1972G>C	XP_005244806.1:p.Glu658Gln
XM_011541429.2:c.1972G>C	XP_011539731.1:p.Glu658Gln
XR_946650.2:n.2043G>C
NM_001305275.2:c.1972G>C	NP_001292204.1:p.Glu658Gln
NM_198576.4:c.1972G>C MANE Select	NP_940978.2:p.Glu658Gln
NM_001364727.2:c.1657G>C	NP_001351656.1:p.Glu553Gln