Canonical Allele Identifier: CA509764

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1041839
• ClinVar RCV Id: RCV001345705
• dbSNP Id: rs532777950
• ExAC: 1:985649 A / G
• gnomAD v2: 1-985649-A-G
• gnomAD v3: 1-1050269-A-G
• gnomAD v4: 1-1050269-A-G
• MyVariant Identifiers: chr1:g.985649A>G (hg19) ; chr1:g.1050269A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050269A>G , CM000663.2:g.1050269A>G	GRCh38
NC_000001.10:g.985649A>G , CM000663.1:g.985649A>G	GRCh37
NC_000001.9:g.975512A>G	NCBI36
NG_016346.1:g.35147A>G , LRG_198:g.35147A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4916A>G MANE Select	ENSP00000368678.2:p.Asp1639Gly
ENST00000651234.1:c.4601A>G	ENSP00000499046.1:p.Asp1534Gly
ENST00000652369.1:c.4601A>G	ENSP00000498543.1:p.Asp1534Gly
ENST00000379370.6:c.4916A>G	ENSP00000368678.2:p.Asp1639Gly
ENST00000620552.4:c.4502A>G	ENSP00000484607.1:p.Asp1501Gly
NM_001305275.1:c.4916A>G	NP_001292204.1:p.Asp1639Gly
NM_198576.3:c.4916A>G	NP_940978.2:p.Asp1639Gly
XM_005244749.2:c.4916A>G	XP_005244806.1:p.Asp1639Gly
XM_006710635.2:c.4916A>G	XP_006710698.1:p.Asp1639Gly
XM_011541429.1:c.4916A>G	XP_011539731.1:p.Asp1639Gly
XM_011541430.1:c.4043A>G	XP_011539732.1:p.Asp1348Gly
XM_011541431.1:c.3182A>G	XP_011539733.1:p.Asp1061Gly
XR_946650.1:n.4983A>G
NM_001364727.1:c.4601A>G	NP_001351656.1:p.Asp1534Gly
XM_005244749.3:c.4916A>G	XP_005244806.1:p.Asp1639Gly
XM_011541429.2:c.4916A>G	XP_011539731.1:p.Asp1639Gly
XR_946650.2:n.4987A>G
NM_001305275.2:c.4916A>G	NP_001292204.1:p.Asp1639Gly
NM_198576.4:c.4916A>G MANE Select	NP_940978.2:p.Asp1639Gly
NM_001364727.2:c.4601A>G	NP_001351656.1:p.Asp1534Gly