Canonical Allele Identifier: CA509765

Gene: AGRN

Linked Data

• ClinVar Variation Id: 2879812
• ClinVar RCV Id: RCV003746343
• dbSNP Id: rs148789015
• ExAC: 1:985656 C / T
• gnomAD v2: 1-985656-C-T
• gnomAD v3: 1-1050276-C-T
• gnomAD v4: 1-1050276-C-T
• MyVariant Identifiers: chr1:g.985656C>T (hg19) ; chr1:g.1050276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050276C>T , CM000663.2:g.1050276C>T	GRCh38
NC_000001.10:g.985656C>T , CM000663.1:g.985656C>T	GRCh37
NC_000001.9:g.975519C>T	NCBI36
NG_016346.1:g.35154C>T , LRG_198:g.35154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4923C>T MANE Select	ENSP00000368678.2:p.Asn1641=
ENST00000651234.1:c.4608C>T	ENSP00000499046.1:p.Asn1536=
ENST00000652369.1:c.4608C>T	ENSP00000498543.1:p.Asn1536=
ENST00000379370.6:c.4923C>T	ENSP00000368678.2:p.Asn1641=
ENST00000620552.4:c.4509C>T	ENSP00000484607.1:p.Asn1503=
NM_001305275.1:c.4923C>T	NP_001292204.1:p.Asn1641=
NM_198576.3:c.4923C>T	NP_940978.2:p.Asn1641=
XM_005244749.2:c.4923C>T	XP_005244806.1:p.Asn1641=
XM_006710635.2:c.4923C>T	XP_006710698.1:p.Asn1641=
XM_011541429.1:c.4923C>T	XP_011539731.1:p.Asn1641=
XM_011541430.1:c.4050C>T	XP_011539732.1:p.Asn1350=
XM_011541431.1:c.3189C>T	XP_011539733.1:p.Asn1063=
XR_946650.1:n.4990C>T
NM_001364727.1:c.4608C>T	NP_001351656.1:p.Asn1536=
XM_005244749.3:c.4923C>T	XP_005244806.1:p.Asn1641=
XM_011541429.2:c.4923C>T	XP_011539731.1:p.Asn1641=
XR_946650.2:n.4994C>T
NM_001305275.2:c.4923C>T	NP_001292204.1:p.Asn1641=
NM_198576.4:c.4923C>T MANE Select	NP_940978.2:p.Asn1641=
NM_001364727.2:c.4608C>T	NP_001351656.1:p.Asn1536=