Canonical Allele Identifier: CA415757946

Gene: AGRN

Linked Data

• gnomAD v4: 1-1047834-C-A
• MyVariant Identifiers: chr1:g.983214C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047834C>A , CM000663.2:g.1047834C>A	GRCh38
NC_000001.10:g.983214C>A , CM000663.1:g.983214C>A	GRCh37
NC_000001.9:g.973077C>A	NCBI36
NG_016346.1:g.32712C>A , LRG_198:g.32712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3690C>A MANE Select	ENSP00000368678.2:p.Ser1230=
ENST00000651234.1:c.3375C>A	ENSP00000499046.1:p.Ser1125=
ENST00000652369.1:c.3375C>A	ENSP00000498543.1:p.Ser1125=
ENST00000379370.6:c.3690C>A	ENSP00000368678.2:p.Ser1230=
ENST00000466223.1:n.428C>A
ENST00000478677.1:n.272C>A
ENST00000620552.4:c.3276C>A	ENSP00000484607.1:p.Ser1092=
NM_001305275.1:c.3690C>A	NP_001292204.1:p.Ser1230=
NM_198576.3:c.3690C>A	NP_940978.2:p.Ser1230=
XM_005244749.2:c.3690C>A	XP_005244806.1:p.Ser1230=
XM_006710635.2:c.3690C>A	XP_006710698.1:p.Ser1230=
XM_011541429.1:c.3690C>A	XP_011539731.1:p.Ser1230=
XM_011541430.1:c.2817C>A	XP_011539732.1:p.Ser939=
XM_011541431.1:c.1956C>A	XP_011539733.1:p.Ser652=
XR_946650.1:n.3757C>A
NM_001364727.1:c.3375C>A	NP_001351656.1:p.Ser1125=
XM_005244749.3:c.3690C>A	XP_005244806.1:p.Ser1230=
XM_011541429.2:c.3690C>A	XP_011539731.1:p.Ser1230=
XR_946650.2:n.3761C>A
NM_001305275.2:c.3690C>A	NP_001292204.1:p.Ser1230=
NM_198576.4:c.3690C>A MANE Select	NP_940978.2:p.Ser1230=
NM_001364727.2:c.3375C>A	NP_001351656.1:p.Ser1125=