Canonical Allele Identifier: CA337834740

Gene: AGRN

Linked Data

• gnomAD v4: 1-1043879-G-T
• MyVariant Identifiers: chr1:g.979259G>T (hg19) ; chr1:g.1043879G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043879G>T , CM000663.2:g.1043879G>T	GRCh38
NC_000001.10:g.979259G>T , CM000663.1:g.979259G>T	GRCh37
NC_000001.9:g.969122G>T	NCBI36
NG_016346.1:g.28757G>T , LRG_198:g.28757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1855G>T MANE Select	ENSP00000368678.2:p.Val619Leu
ENST00000651234.1:c.1540G>T	ENSP00000499046.1:p.Val514Leu
ENST00000652369.1:c.1540G>T	ENSP00000498543.1:p.Val514Leu
ENST00000379370.6:c.1855G>T	ENSP00000368678.2:p.Val619Leu
ENST00000620552.4:c.1441G>T	ENSP00000484607.1:p.Val481Leu
NM_001305275.1:c.1855G>T	NP_001292204.1:p.Val619Leu
NM_198576.3:c.1855G>T	NP_940978.2:p.Val619Leu
XM_005244749.2:c.1855G>T	XP_005244806.1:p.Val619Leu
XM_006710635.2:c.1855G>T	XP_006710698.1:p.Val619Leu
XM_011541429.1:c.1855G>T	XP_011539731.1:p.Val619Leu
XM_011541430.1:c.982G>T	XP_011539732.1:p.Val328Leu
XM_011541431.1:c.121G>T	XP_011539733.1:p.Val41Leu
XR_946650.1:n.1922G>T
NM_001364727.1:c.1540G>T	NP_001351656.1:p.Val514Leu
XM_005244749.3:c.1855G>T	XP_005244806.1:p.Val619Leu
XM_011541429.2:c.1855G>T	XP_011539731.1:p.Val619Leu
XR_946650.2:n.1926G>T
NM_001305275.2:c.1855G>T	NP_001292204.1:p.Val619Leu
NM_198576.4:c.1855G>T MANE Select	NP_940978.2:p.Val619Leu
NM_001364727.2:c.1540G>T	NP_001351656.1:p.Val514Leu