Canonical Allele Identifier: CA337834288

Gene: AGRN

Linked Data

• dbSNP Id: rs1436994948
• gnomAD v2: 1-979208-T-C
• gnomAD v3: 1-1043828-T-C
• gnomAD v4: 1-1043828-T-C
• MyVariant Identifiers: chr1:g.979208T>C (hg19) ; chr1:g.1043828T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043828T>C , CM000663.2:g.1043828T>C	GRCh38
NC_000001.10:g.979208T>C , CM000663.1:g.979208T>C	GRCh37
NC_000001.9:g.969071T>C	NCBI36
NG_016346.1:g.28706T>C , LRG_198:g.28706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1804T>C MANE Select	ENSP00000368678.2:p.Cys602Arg
ENST00000651234.1:c.1489T>C	ENSP00000499046.1:p.Cys497Arg
ENST00000652369.1:c.1489T>C	ENSP00000498543.1:p.Cys497Arg
ENST00000379370.6:c.1804T>C	ENSP00000368678.2:p.Cys602Arg
ENST00000620552.4:c.1390T>C	ENSP00000484607.1:p.Cys464Arg
NM_001305275.1:c.1804T>C	NP_001292204.1:p.Cys602Arg
NM_198576.3:c.1804T>C	NP_940978.2:p.Cys602Arg
XM_005244749.2:c.1804T>C	XP_005244806.1:p.Cys602Arg
XM_006710635.2:c.1804T>C	XP_006710698.1:p.Cys602Arg
XM_011541429.1:c.1804T>C	XP_011539731.1:p.Cys602Arg
XM_011541430.1:c.931T>C	XP_011539732.1:p.Cys311Arg
XM_011541431.1:c.70T>C	XP_011539733.1:p.Cys24Arg
XR_946650.1:n.1871T>C
NM_001364727.1:c.1489T>C	NP_001351656.1:p.Cys497Arg
XM_005244749.3:c.1804T>C	XP_005244806.1:p.Cys602Arg
XM_011541429.2:c.1804T>C	XP_011539731.1:p.Cys602Arg
XR_946650.2:n.1875T>C
NM_001305275.2:c.1804T>C	NP_001292204.1:p.Cys602Arg
NM_198576.4:c.1804T>C MANE Select	NP_940978.2:p.Cys602Arg
NM_001364727.2:c.1489T>C	NP_001351656.1:p.Cys497Arg