Canonical Allele Identifier: CA337853340

Gene: AGRN

Linked Data

• dbSNP Id: rs1190512753
• gnomAD v2: 1-983670-T-A
• gnomAD v4: 1-1048290-T-A
• MyVariant Identifiers: chr1:g.983670T>A (hg19) ; chr1:g.1048290T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048290T>A , CM000663.2:g.1048290T>A	GRCh38
NC_000001.10:g.983670T>A , CM000663.1:g.983670T>A	GRCh37
NC_000001.9:g.973533T>A	NCBI36
NG_016346.1:g.33168T>A , LRG_198:g.33168T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4030T>A MANE Select	ENSP00000368678.2:p.Cys1344Ser
ENST00000651234.1:c.3715T>A	ENSP00000499046.1:p.Cys1239Ser
ENST00000652369.1:c.3715T>A	ENSP00000498543.1:p.Cys1239Ser
ENST00000379370.6:c.4030T>A	ENSP00000368678.2:p.Cys1344Ser
ENST00000620552.4:c.3616T>A	ENSP00000484607.1:p.Cys1206Ser
NM_001305275.1:c.4030T>A	NP_001292204.1:p.Cys1344Ser
NM_198576.3:c.4030T>A	NP_940978.2:p.Cys1344Ser
XM_005244749.2:c.4030T>A	XP_005244806.1:p.Cys1344Ser
XM_006710635.2:c.4030T>A	XP_006710698.1:p.Cys1344Ser
XM_011541429.1:c.4030T>A	XP_011539731.1:p.Cys1344Ser
XM_011541430.1:c.3157T>A	XP_011539732.1:p.Cys1053Ser
XM_011541431.1:c.2296T>A	XP_011539733.1:p.Cys766Ser
XR_946650.1:n.4097T>A
NM_001364727.1:c.3715T>A	NP_001351656.1:p.Cys1239Ser
XM_005244749.3:c.4030T>A	XP_005244806.1:p.Cys1344Ser
XM_011541429.2:c.4030T>A	XP_011539731.1:p.Cys1344Ser
XR_946650.2:n.4101T>A
NM_001305275.2:c.4030T>A	NP_001292204.1:p.Cys1344Ser
NM_198576.4:c.4030T>A MANE Select	NP_940978.2:p.Cys1344Ser
NM_001364727.2:c.3715T>A	NP_001351656.1:p.Cys1239Ser