Canonical Allele Identifier: CA337835801

Gene: AGRN

Linked Data

• gnomAD v4: 1-1044109-C-G
• MyVariant Identifiers: chr1:g.979489C>G (hg19) ; chr1:g.1044109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1044109C>G , CM000663.2:g.1044109C>G	GRCh38
NC_000001.10:g.979489C>G , CM000663.1:g.979489C>G	GRCh37
NC_000001.9:g.969352C>G	NCBI36
NG_016346.1:g.28987C>G , LRG_198:g.28987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.2000C>G MANE Select	ENSP00000368678.2:p.Ala667Gly
ENST00000651234.1:c.1685C>G	ENSP00000499046.1:p.Ala562Gly
ENST00000652369.1:c.1685C>G	ENSP00000498543.1:p.Ala562Gly
ENST00000379370.6:c.2000C>G	ENSP00000368678.2:p.Ala667Gly
ENST00000620552.4:c.1586C>G	ENSP00000484607.1:p.Ala529Gly
NM_001305275.1:c.2000C>G	NP_001292204.1:p.Ala667Gly
NM_198576.3:c.2000C>G	NP_940978.2:p.Ala667Gly
XM_005244749.2:c.2000C>G	XP_005244806.1:p.Ala667Gly
XM_006710635.2:c.2000C>G	XP_006710698.1:p.Ala667Gly
XM_011541429.1:c.2000C>G	XP_011539731.1:p.Ala667Gly
XM_011541430.1:c.1127C>G	XP_011539732.1:p.Ala376Gly
XM_011541431.1:c.266C>G	XP_011539733.1:p.Ala89Gly
XR_946650.1:n.2067C>G
NM_001364727.1:c.1685C>G	NP_001351656.1:p.Ala562Gly
XM_005244749.3:c.2000C>G	XP_005244806.1:p.Ala667Gly
XM_011541429.2:c.2000C>G	XP_011539731.1:p.Ala667Gly
XR_946650.2:n.2071C>G
NM_001305275.2:c.2000C>G	NP_001292204.1:p.Ala667Gly
NM_198576.4:c.2000C>G MANE Select	NP_940978.2:p.Ala667Gly
NM_001364727.2:c.1685C>G	NP_001351656.1:p.Ala562Gly