Canonical Allele Identifier: CA509763

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1539974
• ClinVar RCV Id: RCV002154848
• dbSNP Id: rs760329841
• ExAC: 1:985647 T / C
• gnomAD v2: 1-985647-T-C
• gnomAD v3: 1-1050267-T-C
• gnomAD v4: 1-1050267-T-C
• MyVariant Identifiers: chr1:g.985647T>C (hg19) ; chr1:g.1050267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050267T>C , CM000663.2:g.1050267T>C	GRCh38
NC_000001.10:g.985647T>C , CM000663.1:g.985647T>C	GRCh37
NC_000001.9:g.975510T>C	NCBI36
NG_016346.1:g.35145T>C , LRG_198:g.35145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4914T>C MANE Select	ENSP00000368678.2:p.Ala1638=
ENST00000651234.1:c.4599T>C	ENSP00000499046.1:p.Ala1533=
ENST00000652369.1:c.4599T>C	ENSP00000498543.1:p.Ala1533=
ENST00000379370.6:c.4914T>C	ENSP00000368678.2:p.Ala1638=
ENST00000620552.4:c.4500T>C	ENSP00000484607.1:p.Ala1500=
NM_001305275.1:c.4914T>C	NP_001292204.1:p.Ala1638=
NM_198576.3:c.4914T>C	NP_940978.2:p.Ala1638=
XM_005244749.2:c.4914T>C	XP_005244806.1:p.Ala1638=
XM_006710635.2:c.4914T>C	XP_006710698.1:p.Ala1638=
XM_011541429.1:c.4914T>C	XP_011539731.1:p.Ala1638=
XM_011541430.1:c.4041T>C	XP_011539732.1:p.Ala1347=
XM_011541431.1:c.3180T>C	XP_011539733.1:p.Ala1060=
XR_946650.1:n.4981T>C
NM_001364727.1:c.4599T>C	NP_001351656.1:p.Ala1533=
XM_005244749.3:c.4914T>C	XP_005244806.1:p.Ala1638=
XM_011541429.2:c.4914T>C	XP_011539731.1:p.Ala1638=
XR_946650.2:n.4985T>C
NM_001305275.2:c.4914T>C	NP_001292204.1:p.Ala1638=
NM_198576.4:c.4914T>C MANE Select	NP_940978.2:p.Ala1638=
NM_001364727.2:c.4599T>C	NP_001351656.1:p.Ala1533=