Canonical Allele Identifier: CA415758026

Gene: AGRN

Linked Data

• dbSNP Id: rs777055497
• gnomAD v2: 1-983175-C-A
• gnomAD v3: 1-1047795-C-A
• gnomAD v4: 1-1047795-C-A
• MyVariant Identifiers: chr1:g.983175C>A (hg19) ; chr1:g.1047795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047795C>A , CM000663.2:g.1047795C>A	GRCh38
NC_000001.10:g.983175C>A , CM000663.1:g.983175C>A	GRCh37
NC_000001.9:g.973038C>A	NCBI36
NG_016346.1:g.32673C>A , LRG_198:g.32673C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3651C>A MANE Select	ENSP00000368678.2:p.Pro1217=
ENST00000651234.1:c.3336C>A	ENSP00000499046.1:p.Pro1112=
ENST00000652369.1:c.3336C>A	ENSP00000498543.1:p.Pro1112=
ENST00000379370.6:c.3651C>A	ENSP00000368678.2:p.Pro1217=
ENST00000466223.1:n.389C>A
ENST00000478677.1:n.233C>A
ENST00000620552.4:c.3237C>A	ENSP00000484607.1:p.Pro1079=
NM_001305275.1:c.3651C>A	NP_001292204.1:p.Pro1217=
NM_198576.3:c.3651C>A	NP_940978.2:p.Pro1217=
XM_005244749.2:c.3651C>A	XP_005244806.1:p.Pro1217=
XM_006710635.2:c.3651C>A	XP_006710698.1:p.Pro1217=
XM_011541429.1:c.3651C>A	XP_011539731.1:p.Pro1217=
XM_011541430.1:c.2778C>A	XP_011539732.1:p.Pro926=
XM_011541431.1:c.1917C>A	XP_011539733.1:p.Pro639=
XR_946650.1:n.3718C>A
NM_001364727.1:c.3336C>A	NP_001351656.1:p.Pro1112=
XM_005244749.3:c.3651C>A	XP_005244806.1:p.Pro1217=
XM_011541429.2:c.3651C>A	XP_011539731.1:p.Pro1217=
XR_946650.2:n.3722C>A
NM_001305275.2:c.3651C>A	NP_001292204.1:p.Pro1217=
NM_198576.4:c.3651C>A MANE Select	NP_940978.2:p.Pro1217=
NM_001364727.2:c.3336C>A	NP_001351656.1:p.Pro1112=