Canonical Allele Identifier: CA337834420

Gene: AGRN

Linked Data

• gnomAD v4: 1-1043845-T-G
• MyVariant Identifiers: chr1:g.979225T>G (hg19) ; chr1:g.1043845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043845T>G , CM000663.2:g.1043845T>G	GRCh38
NC_000001.10:g.979225T>G , CM000663.1:g.979225T>G	GRCh37
NC_000001.9:g.969088T>G	NCBI36
NG_016346.1:g.28723T>G , LRG_198:g.28723T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1821T>G MANE Select	ENSP00000368678.2:p.Cys607Trp
ENST00000651234.1:c.1506T>G	ENSP00000499046.1:p.Cys502Trp
ENST00000652369.1:c.1506T>G	ENSP00000498543.1:p.Cys502Trp
ENST00000379370.6:c.1821T>G	ENSP00000368678.2:p.Cys607Trp
ENST00000620552.4:c.1407T>G	ENSP00000484607.1:p.Cys469Trp
NM_001305275.1:c.1821T>G	NP_001292204.1:p.Cys607Trp
NM_198576.3:c.1821T>G	NP_940978.2:p.Cys607Trp
XM_005244749.2:c.1821T>G	XP_005244806.1:p.Cys607Trp
XM_006710635.2:c.1821T>G	XP_006710698.1:p.Cys607Trp
XM_011541429.1:c.1821T>G	XP_011539731.1:p.Cys607Trp
XM_011541430.1:c.948T>G	XP_011539732.1:p.Cys316Trp
XM_011541431.1:c.87T>G	XP_011539733.1:p.Cys29Trp
XR_946650.1:n.1888T>G
NM_001364727.1:c.1506T>G	NP_001351656.1:p.Cys502Trp
XM_005244749.3:c.1821T>G	XP_005244806.1:p.Cys607Trp
XM_011541429.2:c.1821T>G	XP_011539731.1:p.Cys607Trp
XR_946650.2:n.1892T>G
NM_001305275.2:c.1821T>G	NP_001292204.1:p.Cys607Trp
NM_198576.4:c.1821T>G MANE Select	NP_940978.2:p.Cys607Trp
NM_001364727.2:c.1506T>G	NP_001351656.1:p.Cys502Trp