Canonical Allele Identifier: CA508431

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1122335
• ClinVar RCV Id: RCV001452983
• dbSNP Id: rs756204860
• ExAC: 1:979490 C / T
• gnomAD v2: 1-979490-C-T
• gnomAD v4: 1-1044110-C-T
• MyVariant Identifiers: chr1:g.979490C>T (hg19) ; chr1:g.1044110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044110C>T , CM000663.2:g.1044110C>T	GRCh38
NC_000001.10:g.979490C>T , CM000663.1:g.979490C>T	GRCh37
NC_000001.9:g.969353C>T	NCBI36
NG_016346.1:g.28988C>T , LRG_198:g.28988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2001C>T MANE Select	ENSP00000368678.2:p.Ala667=
ENST00000651234.1:c.1686C>T	ENSP00000499046.1:p.Ala562=
ENST00000652369.1:c.1686C>T	ENSP00000498543.1:p.Ala562=
ENST00000379370.6:c.2001C>T	ENSP00000368678.2:p.Ala667=
ENST00000620552.4:c.1587C>T	ENSP00000484607.1:p.Ala529=
NM_001305275.1:c.2001C>T	NP_001292204.1:p.Ala667=
NM_198576.3:c.2001C>T	NP_940978.2:p.Ala667=
XM_005244749.2:c.2001C>T	XP_005244806.1:p.Ala667=
XM_006710635.2:c.2001C>T	XP_006710698.1:p.Ala667=
XM_011541429.1:c.2001C>T	XP_011539731.1:p.Ala667=
XM_011541430.1:c.1128C>T	XP_011539732.1:p.Ala376=
XM_011541431.1:c.267C>T	XP_011539733.1:p.Ala89=
XR_946650.1:n.2068C>T
NM_001364727.1:c.1686C>T	NP_001351656.1:p.Ala562=
XM_005244749.3:c.2001C>T	XP_005244806.1:p.Ala667=
XM_011541429.2:c.2001C>T	XP_011539731.1:p.Ala667=
XR_946650.2:n.2072C>T
NM_001305275.2:c.2001C>T	NP_001292204.1:p.Ala667=
NM_198576.4:c.2001C>T MANE Select	NP_940978.2:p.Ala667=
NM_001364727.2:c.1686C>T	NP_001351656.1:p.Ala562=