Canonical Allele Identifier: CA337780003

Gene: AGRN

Linked Data

• ClinVar Variation Id: 837287
• ClinVar RCV Id: RCV001038586
• dbSNP Id: rs1479456891
• gnomAD v2: 1-985862-C-T
• gnomAD v4: 1-1050482-C-T
• MyVariant Identifiers: chr1:g.985862C>T (hg19) ; chr1:g.1050482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050482C>T , CM000663.2:g.1050482C>T	GRCh38
NC_000001.10:g.985862C>T , CM000663.1:g.985862C>T	GRCh37
NC_000001.9:g.975725C>T	NCBI36
NG_016346.1:g.35360C>T , LRG_198:g.35360C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.5032C>T MANE Select	ENSP00000368678.2:p.Leu1678Phe
ENST00000651234.1:c.4717C>T	ENSP00000499046.1:p.Leu1573Phe
ENST00000652369.1:c.4717C>T	ENSP00000498543.1:p.Leu1573Phe
ENST00000379370.6:c.5032C>T	ENSP00000368678.2:p.Leu1678Phe
ENST00000620552.4:c.4618C>T	ENSP00000484607.1:p.Leu1540Phe
NM_001305275.1:c.5032C>T	NP_001292204.1:p.Leu1678Phe
NM_198576.3:c.5032C>T	NP_940978.2:p.Leu1678Phe
XM_005244749.2:c.5032C>T	XP_005244806.1:p.Leu1678Phe
XM_006710635.2:c.5032C>T	XP_006710698.1:p.Leu1678Phe
XM_011541429.1:c.5032C>T	XP_011539731.1:p.Leu1678Phe
XM_011541430.1:c.4159C>T	XP_011539732.1:p.Leu1387Phe
XM_011541431.1:c.3298C>T	XP_011539733.1:p.Leu1100Phe
XR_946650.1:n.5099C>T
NM_001364727.1:c.4717C>T	NP_001351656.1:p.Leu1573Phe
XM_005244749.3:c.5032C>T	XP_005244806.1:p.Leu1678Phe
XM_011541429.2:c.5032C>T	XP_011539731.1:p.Leu1678Phe
XR_946650.2:n.5103C>T
NM_001305275.2:c.5032C>T	NP_001292204.1:p.Leu1678Phe
NM_198576.4:c.5032C>T MANE Select	NP_940978.2:p.Leu1678Phe
NM_001364727.2:c.4717C>T	NP_001351656.1:p.Leu1573Phe