Canonical Allele Identifier: CA337835388

Gene: AGRN

Linked Data

• gnomAD v4: 1-1043967-C-T
• COSMIC: COSM5381800
• MyVariant Identifiers: chr1:g.979347C>T (hg19) ; chr1:g.1043967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043967C>T , CM000663.2:g.1043967C>T	GRCh38
NC_000001.10:g.979347C>T , CM000663.1:g.979347C>T	GRCh37
NC_000001.9:g.969210C>T	NCBI36
NG_016346.1:g.28845C>T , LRG_198:g.28845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1943C>T MANE Select	ENSP00000368678.2:p.Ala648Val
ENST00000651234.1:c.1628C>T	ENSP00000499046.1:p.Ala543Val
ENST00000652369.1:c.1628C>T	ENSP00000498543.1:p.Ala543Val
ENST00000379370.6:c.1943C>T	ENSP00000368678.2:p.Ala648Val
ENST00000620552.4:c.1529C>T	ENSP00000484607.1:p.Ala510Val
NM_001305275.1:c.1943C>T	NP_001292204.1:p.Ala648Val
NM_198576.3:c.1943C>T	NP_940978.2:p.Ala648Val
XM_005244749.2:c.1943C>T	XP_005244806.1:p.Ala648Val
XM_006710635.2:c.1943C>T	XP_006710698.1:p.Ala648Val
XM_011541429.1:c.1943C>T	XP_011539731.1:p.Ala648Val
XM_011541430.1:c.1070C>T	XP_011539732.1:p.Ala357Val
XM_011541431.1:c.209C>T	XP_011539733.1:p.Ala70Val
XR_946650.1:n.2010C>T
NM_001364727.1:c.1628C>T	NP_001351656.1:p.Ala543Val
XM_005244749.3:c.1943C>T	XP_005244806.1:p.Ala648Val
XM_011541429.2:c.1943C>T	XP_011539731.1:p.Ala648Val
XR_946650.2:n.2014C>T
NM_001305275.2:c.1943C>T	NP_001292204.1:p.Ala648Val
NM_198576.4:c.1943C>T MANE Select	NP_940978.2:p.Ala648Val
NM_001364727.2:c.1628C>T	NP_001351656.1:p.Ala543Val