Canonical Allele Identifier: CA337853371

Gene: AGRN

Linked Data

• dbSNP Id: rs1645161987
• gnomAD v4: 1-1048299-T-C
• MyVariant Identifiers: chr1:g.983679T>C (hg19) ; chr1:g.1048299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048299T>C , CM000663.2:g.1048299T>C	GRCh38
NC_000001.10:g.983679T>C , CM000663.1:g.983679T>C	GRCh37
NC_000001.9:g.973542T>C	NCBI36
NG_016346.1:g.33177T>C , LRG_198:g.33177T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4039T>C MANE Select	ENSP00000368678.2:p.Trp1347Arg
ENST00000651234.1:c.3724T>C	ENSP00000499046.1:p.Trp1242Arg
ENST00000652369.1:c.3724T>C	ENSP00000498543.1:p.Trp1242Arg
ENST00000379370.6:c.4039T>C	ENSP00000368678.2:p.Trp1347Arg
ENST00000620552.4:c.3625T>C	ENSP00000484607.1:p.Trp1209Arg
NM_001305275.1:c.4039T>C	NP_001292204.1:p.Trp1347Arg
NM_198576.3:c.4039T>C	NP_940978.2:p.Trp1347Arg
XM_005244749.2:c.4039T>C	XP_005244806.1:p.Trp1347Arg
XM_006710635.2:c.4039T>C	XP_006710698.1:p.Trp1347Arg
XM_011541429.1:c.4039T>C	XP_011539731.1:p.Trp1347Arg
XM_011541430.1:c.3166T>C	XP_011539732.1:p.Trp1056Arg
XM_011541431.1:c.2305T>C	XP_011539733.1:p.Trp769Arg
XR_946650.1:n.4106T>C
NM_001364727.1:c.3724T>C	NP_001351656.1:p.Trp1242Arg
XM_005244749.3:c.4039T>C	XP_005244806.1:p.Trp1347Arg
XM_011541429.2:c.4039T>C	XP_011539731.1:p.Trp1347Arg
XR_946650.2:n.4110T>C
NM_001305275.2:c.4039T>C	NP_001292204.1:p.Trp1347Arg
NM_198576.4:c.4039T>C MANE Select	NP_940978.2:p.Trp1347Arg
NM_001364727.2:c.3724T>C	NP_001351656.1:p.Trp1242Arg