Canonical Allele Identifier: CA16603377

Gene: AGRN

Linked Data

• ClinVar Variation Id: 390111
• ClinVar RCV Id: RCV000443642 ; RCV001225713
• dbSNP Id: rs1042435801
• gnomAD v2: 1-979310-G-A
• gnomAD v3: 1-1043930-G-A
• gnomAD v4: 1-1043930-G-A
• MyVariant Identifiers: chr1:g.979310G>A (hg19) ; chr1:g.1043930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043930G>A , CM000663.2:g.1043930G>A	GRCh38
NC_000001.10:g.979310G>A , CM000663.1:g.979310G>A	GRCh37
NC_000001.9:g.969173G>A	NCBI36
NG_016346.1:g.28808G>A , LRG_198:g.28808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1906G>A MANE Select	ENSP00000368678.2:p.Gly636Ser
ENST00000651234.1:c.1591G>A	ENSP00000499046.1:p.Gly531Ser
ENST00000652369.1:c.1591G>A	ENSP00000498543.1:p.Gly531Ser
ENST00000379370.6:c.1906G>A	ENSP00000368678.2:p.Gly636Ser
ENST00000620552.4:c.1492G>A	ENSP00000484607.1:p.Gly498Ser
NM_001305275.1:c.1906G>A	NP_001292204.1:p.Gly636Ser
NM_198576.3:c.1906G>A	NP_940978.2:p.Gly636Ser
XM_005244749.2:c.1906G>A	XP_005244806.1:p.Gly636Ser
XM_006710635.2:c.1906G>A	XP_006710698.1:p.Gly636Ser
XM_011541429.1:c.1906G>A	XP_011539731.1:p.Gly636Ser
XM_011541430.1:c.1033G>A	XP_011539732.1:p.Gly345Ser
XM_011541431.1:c.172G>A	XP_011539733.1:p.Gly58Ser
XR_946650.1:n.1973G>A
NM_001364727.1:c.1591G>A	NP_001351656.1:p.Gly531Ser
XM_005244749.3:c.1906G>A	XP_005244806.1:p.Gly636Ser
XM_011541429.2:c.1906G>A	XP_011539731.1:p.Gly636Ser
XR_946650.2:n.1977G>A
NM_001305275.2:c.1906G>A	NP_001292204.1:p.Gly636Ser
NM_198576.4:c.1906G>A MANE Select	NP_940978.2:p.Gly636Ser
NM_001364727.2:c.1591G>A	NP_001351656.1:p.Gly531Ser