Canonical Allele Identifier: CA337780388

Gene: AGRN

Linked Data

• gnomAD v4: 1-1050576-G-T
• MyVariant Identifiers: chr1:g.985956G>T (hg19) ; chr1:g.1050576G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050576G>T , CM000663.2:g.1050576G>T	GRCh38
NC_000001.10:g.985956G>T , CM000663.1:g.985956G>T	GRCh37
NC_000001.9:g.975819G>T	NCBI36
NG_016346.1:g.35454G>T , LRG_198:g.35454G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.5126G>T MANE Select	ENSP00000368678.2:p.Gly1709Val
ENST00000651234.1:c.4811G>T	ENSP00000499046.1:p.Gly1604Val
ENST00000652369.1:c.4811G>T	ENSP00000498543.1:p.Gly1604Val
ENST00000379370.6:c.5126G>T	ENSP00000368678.2:p.Gly1709Val
ENST00000419249.1:c.21G>T
ENST00000620552.4:c.4712G>T	ENSP00000484607.1:p.Gly1571Val
NM_001305275.1:c.5126G>T	NP_001292204.1:p.Gly1709Val
NM_198576.3:c.5126G>T	NP_940978.2:p.Gly1709Val
XM_005244749.2:c.5126G>T	XP_005244806.1:p.Gly1709Val
XM_006710635.2:c.5126G>T	XP_006710698.1:p.Gly1709Val
XM_011541429.1:c.5126G>T	XP_011539731.1:p.Gly1709Val
XM_011541430.1:c.4253G>T	XP_011539732.1:p.Gly1418Val
XM_011541431.1:c.3392G>T	XP_011539733.1:p.Gly1131Val
XR_946650.1:n.5193G>T
NM_001364727.1:c.4811G>T	NP_001351656.1:p.Gly1604Val
XM_005244749.3:c.5126G>T	XP_005244806.1:p.Gly1709Val
XM_011541429.2:c.5126G>T	XP_011539731.1:p.Gly1709Val
XR_946650.2:n.5197G>T
NM_001305275.2:c.5126G>T	NP_001292204.1:p.Gly1709Val
NM_198576.4:c.5126G>T MANE Select	NP_940978.2:p.Gly1709Val
NM_001364727.2:c.4811G>T	NP_001351656.1:p.Gly1604Val