Canonical Allele Identifier: CA337836059

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1020532
• ClinVar RCV Id: RCV001320122
• dbSNP Id: rs1645026919
• gnomAD v4: 1-1044177-C-T
• COSMIC: COSM4618010
• MyVariant Identifiers: chr1:g.979557C>T (hg19) ; chr1:g.1044177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044177C>T , CM000663.2:g.1044177C>T	GRCh38
NC_000001.10:g.979557C>T , CM000663.1:g.979557C>T	GRCh37
NC_000001.9:g.969420C>T	NCBI36
NG_016346.1:g.29055C>T , LRG_198:g.29055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2068C>T MANE Select	ENSP00000368678.2:p.Arg690Cys
ENST00000651234.1:c.1753C>T	ENSP00000499046.1:p.Arg585Cys
ENST00000652369.1:c.1753C>T	ENSP00000498543.1:p.Arg585Cys
ENST00000379370.6:c.2068C>T	ENSP00000368678.2:p.Arg690Cys
ENST00000620552.4:c.1654C>T	ENSP00000484607.1:p.Arg552Cys
NM_001305275.1:c.2068C>T	NP_001292204.1:p.Arg690Cys
NM_198576.3:c.2068C>T	NP_940978.2:p.Arg690Cys
XM_005244749.2:c.2068C>T	XP_005244806.1:p.Arg690Cys
XM_006710635.2:c.2068C>T	XP_006710698.1:p.Arg690Cys
XM_011541429.1:c.2068C>T	XP_011539731.1:p.Arg690Cys
XM_011541430.1:c.1195C>T	XP_011539732.1:p.Arg399Cys
XM_011541431.1:c.334C>T	XP_011539733.1:p.Arg112Cys
XR_946650.1:n.2135C>T
NM_001364727.1:c.1753C>T	NP_001351656.1:p.Arg585Cys
XM_005244749.3:c.2068C>T	XP_005244806.1:p.Arg690Cys
XM_011541429.2:c.2068C>T	XP_011539731.1:p.Arg690Cys
XR_946650.2:n.2139C>T
NM_001305275.2:c.2068C>T	NP_001292204.1:p.Arg690Cys
NM_198576.4:c.2068C>T MANE Select	NP_940978.2:p.Arg690Cys
NM_001364727.2:c.1753C>T	NP_001351656.1:p.Arg585Cys