Canonical Allele Identifier: CA509758

Gene: AGRN

Linked Data

• ClinVar Variation Id: 474140
• ClinVar RCV Id: RCV000538720 ; RCV001672850
• dbSNP Id: rs139400715
• ExAC: 1:985626 C / T
• gnomAD v2: 1-985626-C-T
• gnomAD v3: 1-1050246-C-T
• gnomAD v4: 1-1050246-C-T
• MyVariant Identifiers: chr1:g.985626C>T (hg19) ; chr1:g.1050246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050246C>T , CM000663.2:g.1050246C>T	GRCh38
NC_000001.10:g.985626C>T , CM000663.1:g.985626C>T	GRCh37
NC_000001.9:g.975489C>T	NCBI36
NG_016346.1:g.35124C>T , LRG_198:g.35124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4893C>T MANE Select	ENSP00000368678.2:p.Asp1631=
ENST00000651234.1:c.4578C>T	ENSP00000499046.1:p.Asp1526=
ENST00000652369.1:c.4578C>T	ENSP00000498543.1:p.Asp1526=
ENST00000379370.6:c.4893C>T	ENSP00000368678.2:p.Asp1631=
ENST00000620552.4:c.4479C>T	ENSP00000484607.1:p.Asp1493=
NM_001305275.1:c.4893C>T	NP_001292204.1:p.Asp1631=
NM_198576.3:c.4893C>T	NP_940978.2:p.Asp1631=
XM_005244749.2:c.4893C>T	XP_005244806.1:p.Asp1631=
XM_006710635.2:c.4893C>T	XP_006710698.1:p.Asp1631=
XM_011541429.1:c.4893C>T	XP_011539731.1:p.Asp1631=
XM_011541430.1:c.4020C>T	XP_011539732.1:p.Asp1340=
XM_011541431.1:c.3159C>T	XP_011539733.1:p.Asp1053=
XR_946650.1:n.4960C>T
NM_001364727.1:c.4578C>T	NP_001351656.1:p.Asp1526=
XM_005244749.3:c.4893C>T	XP_005244806.1:p.Asp1631=
XM_011541429.2:c.4893C>T	XP_011539731.1:p.Asp1631=
XR_946650.2:n.4964C>T
NM_001305275.2:c.4893C>T	NP_001292204.1:p.Asp1631=
NM_198576.4:c.4893C>T MANE Select	NP_940978.2:p.Asp1631=
NM_001364727.2:c.4578C>T	NP_001351656.1:p.Asp1526=