Canonical Allele Identifier: CA508377

Gene: AGRN

Linked Data

• ClinVar Variation Id: 2533443
• ClinVar RCV Id: RCV003291153
• dbSNP Id: rs770985920
• ExAC: 1:979311 G / A
• gnomAD v2: 1-979311-G-A
• gnomAD v4: 1-1043931-G-A
• MyVariant Identifiers: chr1:g.979311G>A (hg19) ; chr1:g.1043931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043931G>A , CM000663.2:g.1043931G>A	GRCh38
NC_000001.10:g.979311G>A , CM000663.1:g.979311G>A	GRCh37
NC_000001.9:g.969174G>A	NCBI36
NG_016346.1:g.28809G>A , LRG_198:g.28809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1907G>A MANE Select	ENSP00000368678.2:p.Gly636Asp
ENST00000651234.1:c.1592G>A	ENSP00000499046.1:p.Gly531Asp
ENST00000652369.1:c.1592G>A	ENSP00000498543.1:p.Gly531Asp
ENST00000379370.6:c.1907G>A	ENSP00000368678.2:p.Gly636Asp
ENST00000620552.4:c.1493G>A	ENSP00000484607.1:p.Gly498Asp
NM_001305275.1:c.1907G>A	NP_001292204.1:p.Gly636Asp
NM_198576.3:c.1907G>A	NP_940978.2:p.Gly636Asp
XM_005244749.2:c.1907G>A	XP_005244806.1:p.Gly636Asp
XM_006710635.2:c.1907G>A	XP_006710698.1:p.Gly636Asp
XM_011541429.1:c.1907G>A	XP_011539731.1:p.Gly636Asp
XM_011541430.1:c.1034G>A	XP_011539732.1:p.Gly345Asp
XM_011541431.1:c.173G>A	XP_011539733.1:p.Gly58Asp
XR_946650.1:n.1974G>A
NM_001364727.1:c.1592G>A	NP_001351656.1:p.Gly531Asp
XM_005244749.3:c.1907G>A	XP_005244806.1:p.Gly636Asp
XM_011541429.2:c.1907G>A	XP_011539731.1:p.Gly636Asp
XR_946650.2:n.1978G>A
NM_001305275.2:c.1907G>A	NP_001292204.1:p.Gly636Asp
NM_198576.4:c.1907G>A MANE Select	NP_940978.2:p.Gly636Asp
NM_001364727.2:c.1592G>A	NP_001351656.1:p.Gly531Asp