Canonical Allele Identifier: CA337853006

Gene: AGRN

Linked Data

• dbSNP Id: rs1309593266
• gnomAD v2: 1-983551-C-T
• gnomAD v4: 1-1048171-C-T
• MyVariant Identifiers: chr1:g.983551C>T (hg19) ; chr1:g.1048171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048171C>T , CM000663.2:g.1048171C>T	GRCh38
NC_000001.10:g.983551C>T , CM000663.1:g.983551C>T	GRCh37
NC_000001.9:g.973414C>T	NCBI36
NG_016346.1:g.33049C>T , LRG_198:g.33049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3911C>T MANE Select	ENSP00000368678.2:p.Ala1304Val
ENST00000651234.1:c.3596C>T	ENSP00000499046.1:p.Ala1199Val
ENST00000652369.1:c.3596C>T	ENSP00000498543.1:p.Ala1199Val
ENST00000379370.6:c.3911C>T	ENSP00000368678.2:p.Ala1304Val
ENST00000620552.4:c.3497C>T	ENSP00000484607.1:p.Ala1166Val
NM_001305275.1:c.3911C>T	NP_001292204.1:p.Ala1304Val
NM_198576.3:c.3911C>T	NP_940978.2:p.Ala1304Val
XM_005244749.2:c.3911C>T	XP_005244806.1:p.Ala1304Val
XM_006710635.2:c.3911C>T	XP_006710698.1:p.Ala1304Val
XM_011541429.1:c.3911C>T	XP_011539731.1:p.Ala1304Val
XM_011541430.1:c.3038C>T	XP_011539732.1:p.Ala1013Val
XM_011541431.1:c.2177C>T	XP_011539733.1:p.Ala726Val
XR_946650.1:n.3978C>T
NM_001364727.1:c.3596C>T	NP_001351656.1:p.Ala1199Val
XM_005244749.3:c.3911C>T	XP_005244806.1:p.Ala1304Val
XM_011541429.2:c.3911C>T	XP_011539731.1:p.Ala1304Val
XR_946650.2:n.3982C>T
NM_001305275.2:c.3911C>T	NP_001292204.1:p.Ala1304Val
NM_198576.4:c.3911C>T MANE Select	NP_940978.2:p.Ala1304Val
NM_001364727.2:c.3596C>T	NP_001351656.1:p.Ala1199Val