Canonical Allele Identifier: CA337853119

Gene: AGRN

Linked Data

• dbSNP Id: rs550461458
• gnomAD v4: 1-1048203-C-A
• MyVariant Identifiers: chr1:g.983583C>A (hg19) ; chr1:g.1048203C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048203C>A , CM000663.2:g.1048203C>A	GRCh38
NC_000001.10:g.983583C>A , CM000663.1:g.983583C>A	GRCh37
NC_000001.9:g.973446C>A	NCBI36
NG_016346.1:g.33081C>A , LRG_198:g.33081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3943C>A MANE Select	ENSP00000368678.2:p.Pro1315Thr
ENST00000651234.1:c.3628C>A	ENSP00000499046.1:p.Pro1210Thr
ENST00000652369.1:c.3628C>A	ENSP00000498543.1:p.Pro1210Thr
ENST00000379370.6:c.3943C>A	ENSP00000368678.2:p.Pro1315Thr
ENST00000620552.4:c.3529C>A	ENSP00000484607.1:p.Pro1177Thr
NM_001305275.1:c.3943C>A	NP_001292204.1:p.Pro1315Thr
NM_198576.3:c.3943C>A	NP_940978.2:p.Pro1315Thr
XM_005244749.2:c.3943C>A	XP_005244806.1:p.Pro1315Thr
XM_006710635.2:c.3943C>A	XP_006710698.1:p.Pro1315Thr
XM_011541429.1:c.3943C>A	XP_011539731.1:p.Pro1315Thr
XM_011541430.1:c.3070C>A	XP_011539732.1:p.Pro1024Thr
XM_011541431.1:c.2209C>A	XP_011539733.1:p.Pro737Thr
XR_946650.1:n.4010C>A
NM_001364727.1:c.3628C>A	NP_001351656.1:p.Pro1210Thr
XM_005244749.3:c.3943C>A	XP_005244806.1:p.Pro1315Thr
XM_011541429.2:c.3943C>A	XP_011539731.1:p.Pro1315Thr
XR_946650.2:n.4014C>A
NM_001305275.2:c.3943C>A	NP_001292204.1:p.Pro1315Thr
NM_198576.4:c.3943C>A MANE Select	NP_940978.2:p.Pro1315Thr
NM_001364727.2:c.3628C>A	NP_001351656.1:p.Pro1210Thr