Canonical Allele Identifier: CA508357

Gene: AGRN

Linked Data

• dbSNP Id: rs772325293
• ExAC: 1:979249 A / G
• gnomAD v2: 1-979249-A-G
• gnomAD v3: 1-1043869-A-G
• gnomAD v4: 1-1043869-A-G
• MyVariant Identifiers: chr1:g.979249A>G (hg19) ; chr1:g.1043869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043869A>G , CM000663.2:g.1043869A>G	GRCh38
NC_000001.10:g.979249A>G , CM000663.1:g.979249A>G	GRCh37
NC_000001.9:g.969112A>G	NCBI36
NG_016346.1:g.28747A>G , LRG_198:g.28747A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1845A>G MANE Select	ENSP00000368678.2:p.Ala615=
ENST00000651234.1:c.1530A>G	ENSP00000499046.1:p.Ala510=
ENST00000652369.1:c.1530A>G	ENSP00000498543.1:p.Ala510=
ENST00000379370.6:c.1845A>G	ENSP00000368678.2:p.Ala615=
ENST00000620552.4:c.1431A>G	ENSP00000484607.1:p.Ala477=
NM_001305275.1:c.1845A>G	NP_001292204.1:p.Ala615=
NM_198576.3:c.1845A>G	NP_940978.2:p.Ala615=
XM_005244749.2:c.1845A>G	XP_005244806.1:p.Ala615=
XM_006710635.2:c.1845A>G	XP_006710698.1:p.Ala615=
XM_011541429.1:c.1845A>G	XP_011539731.1:p.Ala615=
XM_011541430.1:c.972A>G	XP_011539732.1:p.Ala324=
XM_011541431.1:c.111A>G	XP_011539733.1:p.Ala37=
XR_946650.1:n.1912A>G
NM_001364727.1:c.1530A>G	NP_001351656.1:p.Ala510=
XM_005244749.3:c.1845A>G	XP_005244806.1:p.Ala615=
XM_011541429.2:c.1845A>G	XP_011539731.1:p.Ala615=
XR_946650.2:n.1916A>G
NM_001305275.2:c.1845A>G	NP_001292204.1:p.Ala615=
NM_198576.4:c.1845A>G MANE Select	NP_940978.2:p.Ala615=
NM_001364727.2:c.1530A>G	NP_001351656.1:p.Ala510=