Canonical Allele Identifier: CA415756274

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1157372
• ClinVar RCV Id: RCV001500391
• dbSNP Id: rs1446604818
• gnomAD v2: 1-957610-A-G
• gnomAD v4: 1-1022230-A-G
• MyVariant Identifiers: chr1:g.957610A>G (hg19) ; chr1:g.1022230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1022230A>G , CM000663.2:g.1022230A>G	GRCh38
NC_000001.10:g.957610A>G , CM000663.1:g.957610A>G	GRCh37
NC_000001.9:g.947473A>G	NCBI36
NG_016346.1:g.7108A>G , LRG_198:g.7108A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.231A>G MANE Select	ENSP00000368678.2:p.Lys77=
ENST00000379370.6:c.231A>G	ENSP00000368678.2:p.Lys77=
ENST00000620552.4:c.-184A>G	ENSP00000484607.1:n.-184A>G
NM_001305275.1:c.231A>G	NP_001292204.1:p.Lys77=
NM_198576.3:c.231A>G	NP_940978.2:p.Lys77=
XM_005244749.2:c.231A>G	XP_005244806.1:p.Lys77=
XM_006710635.2:c.231A>G	XP_006710698.1:p.Lys77=
XM_011541429.1:c.231A>G	XP_011539731.1:p.Lys77=
XM_011541430.1:c.231A>G	XP_011539732.1:p.Lys77=
XR_946650.1:n.298A>G
XM_005244749.3:c.231A>G	XP_005244806.1:p.Lys77=
XM_011541429.2:c.231A>G	XP_011539731.1:p.Lys77=
XR_946650.2:n.302A>G
NM_001305275.2:c.231A>G	NP_001292204.1:p.Lys77=
NM_198576.4:c.231A>G MANE Select	NP_940978.2:p.Lys77=