Canonical Allele Identifier: CA337853338

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048290-T-C
• MyVariant Identifiers: chr1:g.983670T>C (hg19) ; chr1:g.1048290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048290T>C , CM000663.2:g.1048290T>C	GRCh38
NC_000001.10:g.983670T>C , CM000663.1:g.983670T>C	GRCh37
NC_000001.9:g.973533T>C	NCBI36
NG_016346.1:g.33168T>C , LRG_198:g.33168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4030T>C MANE Select	ENSP00000368678.2:p.Cys1344Arg
ENST00000651234.1:c.3715T>C	ENSP00000499046.1:p.Cys1239Arg
ENST00000652369.1:c.3715T>C	ENSP00000498543.1:p.Cys1239Arg
ENST00000379370.6:c.4030T>C	ENSP00000368678.2:p.Cys1344Arg
ENST00000620552.4:c.3616T>C	ENSP00000484607.1:p.Cys1206Arg
NM_001305275.1:c.4030T>C	NP_001292204.1:p.Cys1344Arg
NM_198576.3:c.4030T>C	NP_940978.2:p.Cys1344Arg
XM_005244749.2:c.4030T>C	XP_005244806.1:p.Cys1344Arg
XM_006710635.2:c.4030T>C	XP_006710698.1:p.Cys1344Arg
XM_011541429.1:c.4030T>C	XP_011539731.1:p.Cys1344Arg
XM_011541430.1:c.3157T>C	XP_011539732.1:p.Cys1053Arg
XM_011541431.1:c.2296T>C	XP_011539733.1:p.Cys766Arg
XR_946650.1:n.4097T>C
NM_001364727.1:c.3715T>C	NP_001351656.1:p.Cys1239Arg
XM_005244749.3:c.4030T>C	XP_005244806.1:p.Cys1344Arg
XM_011541429.2:c.4030T>C	XP_011539731.1:p.Cys1344Arg
XR_946650.2:n.4101T>C
NM_001305275.2:c.4030T>C	NP_001292204.1:p.Cys1344Arg
NM_198576.4:c.4030T>C MANE Select	NP_940978.2:p.Cys1344Arg
NM_001364727.2:c.3715T>C	NP_001351656.1:p.Cys1239Arg