Canonical Allele Identifier: CA508469

Gene: AGRN

Linked Data

• ClinVar Variation Id: 846173
• ClinVar RCV Id: RCV001049413
• dbSNP Id: rs149814455
• ExAC: 1:979594 C / A
• gnomAD v2: 1-979594-C-A
• gnomAD v3: 1-1044214-C-A
• gnomAD v4: 1-1044214-C-A
• MyVariant Identifiers: chr1:g.979594C>A (hg19) ; chr1:g.1044214C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044214C>A , CM000663.2:g.1044214C>A	GRCh38
NC_000001.10:g.979594C>A , CM000663.1:g.979594C>A	GRCh37
NC_000001.9:g.969457C>A	NCBI36
NG_016346.1:g.29092C>A , LRG_198:g.29092C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2105C>A MANE Select	ENSP00000368678.2:p.Pro702Gln
ENST00000651234.1:c.1790C>A	ENSP00000499046.1:p.Pro597Gln
ENST00000652369.1:c.1790C>A	ENSP00000498543.1:p.Pro597Gln
ENST00000379370.6:c.2105C>A	ENSP00000368678.2:p.Pro702Gln
ENST00000620552.4:c.1691C>A	ENSP00000484607.1:p.Pro564Gln
NM_001305275.1:c.2105C>A	NP_001292204.1:p.Pro702Gln
NM_198576.3:c.2105C>A	NP_940978.2:p.Pro702Gln
XM_005244749.2:c.2105C>A	XP_005244806.1:p.Pro702Gln
XM_006710635.2:c.2105C>A	XP_006710698.1:p.Pro702Gln
XM_011541429.1:c.2105C>A	XP_011539731.1:p.Pro702Gln
XM_011541430.1:c.1232C>A	XP_011539732.1:p.Pro411Gln
XM_011541431.1:c.371C>A	XP_011539733.1:p.Pro124Gln
XR_946650.1:n.2172C>A
NM_001364727.1:c.1790C>A	NP_001351656.1:p.Pro597Gln
XM_005244749.3:c.2105C>A	XP_005244806.1:p.Pro702Gln
XM_011541429.2:c.2105C>A	XP_011539731.1:p.Pro702Gln
XR_946650.2:n.2176C>A
NM_001305275.2:c.2105C>A	NP_001292204.1:p.Pro702Gln
NM_198576.4:c.2105C>A MANE Select	NP_940978.2:p.Pro702Gln
NM_001364727.2:c.1790C>A	NP_001351656.1:p.Pro597Gln