Canonical Allele Identifier: CA337836107

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1983237
• ClinVar RCV Id: RCV002770157
• gnomAD v4: 1-1044192-G-C
• MyVariant Identifiers: chr1:g.979572G>C (hg19) ; chr1:g.1044192G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044192G>C , CM000663.2:g.1044192G>C	GRCh38
NC_000001.10:g.979572G>C , CM000663.1:g.979572G>C	GRCh37
NC_000001.9:g.969435G>C	NCBI36
NG_016346.1:g.29070G>C , LRG_198:g.29070G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2083G>C MANE Select	ENSP00000368678.2:p.Asp695His
ENST00000651234.1:c.1768G>C	ENSP00000499046.1:p.Asp590His
ENST00000652369.1:c.1768G>C	ENSP00000498543.1:p.Asp590His
ENST00000379370.6:c.2083G>C	ENSP00000368678.2:p.Asp695His
ENST00000620552.4:c.1669G>C	ENSP00000484607.1:p.Asp557His
NM_001305275.1:c.2083G>C	NP_001292204.1:p.Asp695His
NM_198576.3:c.2083G>C	NP_940978.2:p.Asp695His
XM_005244749.2:c.2083G>C	XP_005244806.1:p.Asp695His
XM_006710635.2:c.2083G>C	XP_006710698.1:p.Asp695His
XM_011541429.1:c.2083G>C	XP_011539731.1:p.Asp695His
XM_011541430.1:c.1210G>C	XP_011539732.1:p.Asp404His
XM_011541431.1:c.349G>C	XP_011539733.1:p.Asp117His
XR_946650.1:n.2150G>C
NM_001364727.1:c.1768G>C	NP_001351656.1:p.Asp590His
XM_005244749.3:c.2083G>C	XP_005244806.1:p.Asp695His
XM_011541429.2:c.2083G>C	XP_011539731.1:p.Asp695His
XR_946650.2:n.2154G>C
NM_001305275.2:c.2083G>C	NP_001292204.1:p.Asp695His
NM_198576.4:c.2083G>C MANE Select	NP_940978.2:p.Asp695His
NM_001364727.2:c.1768G>C	NP_001351656.1:p.Asp590His