Canonical Allele Identifier: CA337852009

Gene: AGRN

Linked Data

• dbSNP Id: rs138818746
• gnomAD v2: 1-983274-T-G
• gnomAD v4: 1-1047894-T-G
• MyVariant Identifiers: chr1:g.983274T>G (hg19) ; chr1:g.1047894T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047894T>G , CM000663.2:g.1047894T>G	GRCh38
NC_000001.10:g.983274T>G , CM000663.1:g.983274T>G	GRCh37
NC_000001.9:g.973137T>G	NCBI36
NG_016346.1:g.32772T>G , LRG_198:g.32772T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3750T>G MANE Select	ENSP00000368678.2:p.Phe1250Leu
ENST00000651234.1:c.3435T>G	ENSP00000499046.1:p.Phe1145Leu
ENST00000652369.1:c.3435T>G	ENSP00000498543.1:p.Phe1145Leu
ENST00000379370.6:c.3750T>G	ENSP00000368678.2:p.Phe1250Leu
ENST00000620552.4:c.3336T>G	ENSP00000484607.1:p.Phe1112Leu
NM_001305275.1:c.3750T>G	NP_001292204.1:p.Phe1250Leu
NM_198576.3:c.3750T>G	NP_940978.2:p.Phe1250Leu
XM_005244749.2:c.3750T>G	XP_005244806.1:p.Phe1250Leu
XM_006710635.2:c.3750T>G	XP_006710698.1:p.Phe1250Leu
XM_011541429.1:c.3750T>G	XP_011539731.1:p.Phe1250Leu
XM_011541430.1:c.2877T>G	XP_011539732.1:p.Phe959Leu
XM_011541431.1:c.2016T>G	XP_011539733.1:p.Phe672Leu
XR_946650.1:n.3817T>G
NM_001364727.1:c.3435T>G	NP_001351656.1:p.Phe1145Leu
XM_005244749.3:c.3750T>G	XP_005244806.1:p.Phe1250Leu
XM_011541429.2:c.3750T>G	XP_011539731.1:p.Phe1250Leu
XR_946650.2:n.3821T>G
NM_001305275.2:c.3750T>G	NP_001292204.1:p.Phe1250Leu
NM_198576.4:c.3750T>G MANE Select	NP_940978.2:p.Phe1250Leu
NM_001364727.2:c.3435T>G	NP_001351656.1:p.Phe1145Leu