Canonical Allele Identifier: CA337779209

Gene: AGRN

Linked Data

• ClinVar Variation Id: 2254395
• ClinVar RCV Id: RCV002787512
• gnomAD v4: 1-1049772-G-A
• MyVariant Identifiers: chr1:g.985152G>A (hg19) ; chr1:g.1049772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049772G>A , CM000663.2:g.1049772G>A	GRCh38
NC_000001.10:g.985152G>A , CM000663.1:g.985152G>A	GRCh37
NC_000001.9:g.975015G>A	NCBI36
NG_016346.1:g.34650G>A , LRG_198:g.34650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4721G>A MANE Select	ENSP00000368678.2:p.Cys1574Tyr
ENST00000651234.1:c.4406G>A	ENSP00000499046.1:p.Cys1469Tyr
ENST00000652369.1:c.4406G>A	ENSP00000498543.1:p.Cys1469Tyr
ENST00000379370.6:c.4721G>A	ENSP00000368678.2:p.Cys1574Tyr
ENST00000620552.4:c.4307G>A	ENSP00000484607.1:p.Cys1436Tyr
NM_001305275.1:c.4721G>A	NP_001292204.1:p.Cys1574Tyr
NM_198576.3:c.4721G>A	NP_940978.2:p.Cys1574Tyr
XM_005244749.2:c.4721G>A	XP_005244806.1:p.Cys1574Tyr
XM_006710635.2:c.4721G>A	XP_006710698.1:p.Cys1574Tyr
XM_011541429.1:c.4721G>A	XP_011539731.1:p.Cys1574Tyr
XM_011541430.1:c.3848G>A	XP_011539732.1:p.Cys1283Tyr
XM_011541431.1:c.2987G>A	XP_011539733.1:p.Cys996Tyr
XR_946650.1:n.4788G>A
NM_001364727.1:c.4406G>A	NP_001351656.1:p.Cys1469Tyr
XM_005244749.3:c.4721G>A	XP_005244806.1:p.Cys1574Tyr
XM_011541429.2:c.4721G>A	XP_011539731.1:p.Cys1574Tyr
XR_946650.2:n.4792G>A
NM_001305275.2:c.4721G>A	NP_001292204.1:p.Cys1574Tyr
NM_198576.4:c.4721G>A MANE Select	NP_940978.2:p.Cys1574Tyr
NM_001364727.2:c.4406G>A	NP_001351656.1:p.Cys1469Tyr