Canonical Allele Identifier: CA337853393

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048306-T-G
• MyVariant Identifiers: chr1:g.983686T>G (hg19) ; chr1:g.1048306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048306T>G , CM000663.2:g.1048306T>G	GRCh38
NC_000001.10:g.983686T>G , CM000663.1:g.983686T>G	GRCh37
NC_000001.9:g.973549T>G	NCBI36
NG_016346.1:g.33184T>G , LRG_198:g.33184T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4046T>G MANE Select	ENSP00000368678.2:p.Leu1349Trp
ENST00000651234.1:c.3731T>G	ENSP00000499046.1:p.Leu1244Trp
ENST00000652369.1:c.3731T>G	ENSP00000498543.1:p.Leu1244Trp
ENST00000379370.6:c.4046T>G	ENSP00000368678.2:p.Leu1349Trp
ENST00000620552.4:c.3632T>G	ENSP00000484607.1:p.Leu1211Trp
NM_001305275.1:c.4046T>G	NP_001292204.1:p.Leu1349Trp
NM_198576.3:c.4046T>G	NP_940978.2:p.Leu1349Trp
XM_005244749.2:c.4046T>G	XP_005244806.1:p.Leu1349Trp
XM_006710635.2:c.4046T>G	XP_006710698.1:p.Leu1349Trp
XM_011541429.1:c.4046T>G	XP_011539731.1:p.Leu1349Trp
XM_011541430.1:c.3173T>G	XP_011539732.1:p.Leu1058Trp
XM_011541431.1:c.2312T>G	XP_011539733.1:p.Leu771Trp
XR_946650.1:n.4113T>G
NM_001364727.1:c.3731T>G	NP_001351656.1:p.Leu1244Trp
XM_005244749.3:c.4046T>G	XP_005244806.1:p.Leu1349Trp
XM_011541429.2:c.4046T>G	XP_011539731.1:p.Leu1349Trp
XR_946650.2:n.4117T>G
NM_001305275.2:c.4046T>G	NP_001292204.1:p.Leu1349Trp
NM_198576.4:c.4046T>G MANE Select	NP_940978.2:p.Leu1349Trp
NM_001364727.2:c.3731T>G	NP_001351656.1:p.Leu1244Trp