Canonical Allele Identifier: CA337852794

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1510493
• ClinVar RCV Id: RCV002043079
• dbSNP Id: rs1645155187
• MyVariant Identifiers: chr1:g.983510C>A (hg19) ; chr1:g.1048130C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048130C>A , CM000663.2:g.1048130C>A	GRCh38
NC_000001.10:g.983510C>A , CM000663.1:g.983510C>A	GRCh37
NC_000001.9:g.973373C>A	NCBI36
NG_016346.1:g.33008C>A , LRG_198:g.33008C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3870C>A MANE Select	ENSP00000368678.2:p.His1290Gln
ENST00000651234.1:c.3555C>A	ENSP00000499046.1:p.His1185Gln
ENST00000652369.1:c.3555C>A	ENSP00000498543.1:p.His1185Gln
ENST00000379370.6:c.3870C>A	ENSP00000368678.2:p.His1290Gln
ENST00000620552.4:c.3456C>A	ENSP00000484607.1:p.His1152Gln
NM_001305275.1:c.3870C>A	NP_001292204.1:p.His1290Gln
NM_198576.3:c.3870C>A	NP_940978.2:p.His1290Gln
XM_005244749.2:c.3870C>A	XP_005244806.1:p.His1290Gln
XM_006710635.2:c.3870C>A	XP_006710698.1:p.His1290Gln
XM_011541429.1:c.3870C>A	XP_011539731.1:p.His1290Gln
XM_011541430.1:c.2997C>A	XP_011539732.1:p.His999Gln
XM_011541431.1:c.2136C>A	XP_011539733.1:p.His712Gln
XR_946650.1:n.3937C>A
NM_001364727.1:c.3555C>A	NP_001351656.1:p.His1185Gln
XM_005244749.3:c.3870C>A	XP_005244806.1:p.His1290Gln
XM_011541429.2:c.3870C>A	XP_011539731.1:p.His1290Gln
XR_946650.2:n.3941C>A
NM_001305275.2:c.3870C>A	NP_001292204.1:p.His1290Gln
NM_198576.4:c.3870C>A MANE Select	NP_940978.2:p.His1290Gln
NM_001364727.2:c.3555C>A	NP_001351656.1:p.His1185Gln