Canonical Allele Identifier: CA337779677

Gene: AGRN

Linked Data

• ClinVar Variation Id: 2163841
• ClinVar RCV Id: RCV003073457
• dbSNP Id: rs1362706828
• gnomAD v4: 1-1050268-G-T
• MyVariant Identifiers: chr1:g.985648G>T (hg19) ; chr1:g.1050268G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050268G>T , CM000663.2:g.1050268G>T	GRCh38
NC_000001.10:g.985648G>T , CM000663.1:g.985648G>T	GRCh37
NC_000001.9:g.975511G>T	NCBI36
NG_016346.1:g.35146G>T , LRG_198:g.35146G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4915G>T MANE Select	ENSP00000368678.2:p.Asp1639Tyr
ENST00000651234.1:c.4600G>T	ENSP00000499046.1:p.Asp1534Tyr
ENST00000652369.1:c.4600G>T	ENSP00000498543.1:p.Asp1534Tyr
ENST00000379370.6:c.4915G>T	ENSP00000368678.2:p.Asp1639Tyr
ENST00000620552.4:c.4501G>T	ENSP00000484607.1:p.Asp1501Tyr
NM_001305275.1:c.4915G>T	NP_001292204.1:p.Asp1639Tyr
NM_198576.3:c.4915G>T	NP_940978.2:p.Asp1639Tyr
XM_005244749.2:c.4915G>T	XP_005244806.1:p.Asp1639Tyr
XM_006710635.2:c.4915G>T	XP_006710698.1:p.Asp1639Tyr
XM_011541429.1:c.4915G>T	XP_011539731.1:p.Asp1639Tyr
XM_011541430.1:c.4042G>T	XP_011539732.1:p.Asp1348Tyr
XM_011541431.1:c.3181G>T	XP_011539733.1:p.Asp1061Tyr
XR_946650.1:n.4982G>T
NM_001364727.1:c.4600G>T	NP_001351656.1:p.Asp1534Tyr
XM_005244749.3:c.4915G>T	XP_005244806.1:p.Asp1639Tyr
XM_011541429.2:c.4915G>T	XP_011539731.1:p.Asp1639Tyr
XR_946650.2:n.4986G>T
NM_001305275.2:c.4915G>T	NP_001292204.1:p.Asp1639Tyr
NM_198576.4:c.4915G>T MANE Select	NP_940978.2:p.Asp1639Tyr
NM_001364727.2:c.4600G>T	NP_001351656.1:p.Asp1534Tyr