Canonical Allele Identifier: CA337836025

Gene: AGRN

Linked Data

• gnomAD v4: 1-1044168-T-C
• MyVariant Identifiers: chr1:g.979548T>C (hg19) ; chr1:g.1044168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044168T>C , CM000663.2:g.1044168T>C	GRCh38
NC_000001.10:g.979548T>C , CM000663.1:g.979548T>C	GRCh37
NC_000001.9:g.969411T>C	NCBI36
NG_016346.1:g.29046T>C , LRG_198:g.29046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2059T>C MANE Select	ENSP00000368678.2:p.Cys687Arg
ENST00000651234.1:c.1744T>C	ENSP00000499046.1:p.Cys582Arg
ENST00000652369.1:c.1744T>C	ENSP00000498543.1:p.Cys582Arg
ENST00000379370.6:c.2059T>C	ENSP00000368678.2:p.Cys687Arg
ENST00000620552.4:c.1645T>C	ENSP00000484607.1:p.Cys549Arg
NM_001305275.1:c.2059T>C	NP_001292204.1:p.Cys687Arg
NM_198576.3:c.2059T>C	NP_940978.2:p.Cys687Arg
XM_005244749.2:c.2059T>C	XP_005244806.1:p.Cys687Arg
XM_006710635.2:c.2059T>C	XP_006710698.1:p.Cys687Arg
XM_011541429.1:c.2059T>C	XP_011539731.1:p.Cys687Arg
XM_011541430.1:c.1186T>C	XP_011539732.1:p.Cys396Arg
XM_011541431.1:c.325T>C	XP_011539733.1:p.Cys109Arg
XR_946650.1:n.2126T>C
NM_001364727.1:c.1744T>C	NP_001351656.1:p.Cys582Arg
XM_005244749.3:c.2059T>C	XP_005244806.1:p.Cys687Arg
XM_011541429.2:c.2059T>C	XP_011539731.1:p.Cys687Arg
XR_946650.2:n.2130T>C
NM_001305275.2:c.2059T>C	NP_001292204.1:p.Cys687Arg
NM_198576.4:c.2059T>C MANE Select	NP_940978.2:p.Cys687Arg
NM_001364727.2:c.1744T>C	NP_001351656.1:p.Cys582Arg