Canonical Allele Identifier: CA337852828

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048138-A-T
• MyVariant Identifiers: chr1:g.983518A>T (hg19) ; chr1:g.1048138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048138A>T , CM000663.2:g.1048138A>T	GRCh38
NC_000001.10:g.983518A>T , CM000663.1:g.983518A>T	GRCh37
NC_000001.9:g.973381A>T	NCBI36
NG_016346.1:g.33016A>T , LRG_198:g.33016A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3878A>T MANE Select	ENSP00000368678.2:p.His1293Leu
ENST00000651234.1:c.3563A>T	ENSP00000499046.1:p.His1188Leu
ENST00000652369.1:c.3563A>T	ENSP00000498543.1:p.His1188Leu
ENST00000379370.6:c.3878A>T	ENSP00000368678.2:p.His1293Leu
ENST00000620552.4:c.3464A>T	ENSP00000484607.1:p.His1155Leu
NM_001305275.1:c.3878A>T	NP_001292204.1:p.His1293Leu
NM_198576.3:c.3878A>T	NP_940978.2:p.His1293Leu
XM_005244749.2:c.3878A>T	XP_005244806.1:p.His1293Leu
XM_006710635.2:c.3878A>T	XP_006710698.1:p.His1293Leu
XM_011541429.1:c.3878A>T	XP_011539731.1:p.His1293Leu
XM_011541430.1:c.3005A>T	XP_011539732.1:p.His1002Leu
XM_011541431.1:c.2144A>T	XP_011539733.1:p.His715Leu
XR_946650.1:n.3945A>T
NM_001364727.1:c.3563A>T	NP_001351656.1:p.His1188Leu
XM_005244749.3:c.3878A>T	XP_005244806.1:p.His1293Leu
XM_011541429.2:c.3878A>T	XP_011539731.1:p.His1293Leu
XR_946650.2:n.3949A>T
NM_001305275.2:c.3878A>T	NP_001292204.1:p.His1293Leu
NM_198576.4:c.3878A>T MANE Select	NP_940978.2:p.His1293Leu
NM_001364727.2:c.3563A>T	NP_001351656.1:p.His1188Leu