Canonical Allele Identifier: CA337834748

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1370453
• ClinVar RCV Id: RCV001899340
• dbSNP Id: rs1320843935
• MyVariant Identifiers: chr1:g.979260T>C (hg19) ; chr1:g.1043880T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043880T>C , CM000663.2:g.1043880T>C	GRCh38
NC_000001.10:g.979260T>C , CM000663.1:g.979260T>C	GRCh37
NC_000001.9:g.969123T>C	NCBI36
NG_016346.1:g.28758T>C , LRG_198:g.28758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1856T>C MANE Select	ENSP00000368678.2:p.Val619Ala
ENST00000651234.1:c.1541T>C	ENSP00000499046.1:p.Val514Ala
ENST00000652369.1:c.1541T>C	ENSP00000498543.1:p.Val514Ala
ENST00000379370.6:c.1856T>C	ENSP00000368678.2:p.Val619Ala
ENST00000620552.4:c.1442T>C	ENSP00000484607.1:p.Val481Ala
NM_001305275.1:c.1856T>C	NP_001292204.1:p.Val619Ala
NM_198576.3:c.1856T>C	NP_940978.2:p.Val619Ala
XM_005244749.2:c.1856T>C	XP_005244806.1:p.Val619Ala
XM_006710635.2:c.1856T>C	XP_006710698.1:p.Val619Ala
XM_011541429.1:c.1856T>C	XP_011539731.1:p.Val619Ala
XM_011541430.1:c.983T>C	XP_011539732.1:p.Val328Ala
XM_011541431.1:c.122T>C	XP_011539733.1:p.Val41Ala
XR_946650.1:n.1923T>C
NM_001364727.1:c.1541T>C	NP_001351656.1:p.Val514Ala
XM_005244749.3:c.1856T>C	XP_005244806.1:p.Val619Ala
XM_011541429.2:c.1856T>C	XP_011539731.1:p.Val619Ala
XR_946650.2:n.1927T>C
NM_001305275.2:c.1856T>C	NP_001292204.1:p.Val619Ala
NM_198576.4:c.1856T>C MANE Select	NP_940978.2:p.Val619Ala
NM_001364727.2:c.1541T>C	NP_001351656.1:p.Val514Ala