Canonical Allele Identifier: CA337779463

Gene: AGRN

Linked Data

• dbSNP Id: rs1266491930
• gnomAD v2: 1-985355-T-A
• gnomAD v3: 1-1049975-T-A
• gnomAD v4: 1-1049975-T-A
• MyVariant Identifiers: chr1:g.985355T>A (hg19) ; chr1:g.1049975T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049975T>A , CM000663.2:g.1049975T>A	GRCh38
NC_000001.10:g.985355T>A , CM000663.1:g.985355T>A	GRCh37
NC_000001.9:g.975218T>A	NCBI36
NG_016346.1:g.34853T>A , LRG_198:g.34853T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.4817T>A MANE Select	ENSP00000368678.2:p.Leu1606Gln
ENST00000651234.1:c.4502T>A	ENSP00000499046.1:p.Leu1501Gln
ENST00000652369.1:c.4502T>A	ENSP00000498543.1:p.Leu1501Gln
ENST00000379370.6:c.4817T>A	ENSP00000368678.2:p.Leu1606Gln
ENST00000620552.4:c.4403T>A	ENSP00000484607.1:p.Leu1468Gln
NM_001305275.1:c.4817T>A	NP_001292204.1:p.Leu1606Gln
NM_198576.3:c.4817T>A	NP_940978.2:p.Leu1606Gln
XM_005244749.2:c.4817T>A	XP_005244806.1:p.Leu1606Gln
XM_006710635.2:c.4817T>A	XP_006710698.1:p.Leu1606Gln
XM_011541429.1:c.4817T>A	XP_011539731.1:p.Leu1606Gln
XM_011541430.1:c.3944T>A	XP_011539732.1:p.Leu1315Gln
XM_011541431.1:c.3083T>A	XP_011539733.1:p.Leu1028Gln
XR_946650.1:n.4884T>A
NM_001364727.1:c.4502T>A	NP_001351656.1:p.Leu1501Gln
XM_005244749.3:c.4817T>A	XP_005244806.1:p.Leu1606Gln
XM_011541429.2:c.4817T>A	XP_011539731.1:p.Leu1606Gln
XR_946650.2:n.4888T>A
NM_001305275.2:c.4817T>A	NP_001292204.1:p.Leu1606Gln
NM_198576.4:c.4817T>A MANE Select	NP_940978.2:p.Leu1606Gln
NM_001364727.2:c.4502T>A	NP_001351656.1:p.Leu1501Gln