Canonical Allele Identifier: CA337852183

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048023-G-A
• COSMIC: COSM6408775
• MyVariant Identifiers: chr1:g.983403G>A (hg19) ; chr1:g.1048023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048023G>A , CM000663.2:g.1048023G>A	GRCh38
NC_000001.10:g.983403G>A , CM000663.1:g.983403G>A	GRCh37
NC_000001.9:g.973266G>A	NCBI36
NG_016346.1:g.32901G>A , LRG_198:g.32901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3763G>A MANE Select	ENSP00000368678.2:p.Ala1255Thr
ENST00000651234.1:c.3448G>A	ENSP00000499046.1:p.Ala1150Thr
ENST00000652369.1:c.3448G>A	ENSP00000498543.1:p.Ala1150Thr
ENST00000379370.6:c.3763G>A	ENSP00000368678.2:p.Ala1255Thr
ENST00000620552.4:c.3349G>A	ENSP00000484607.1:p.Ala1117Thr
NM_001305275.1:c.3763G>A	NP_001292204.1:p.Ala1255Thr
NM_198576.3:c.3763G>A	NP_940978.2:p.Ala1255Thr
XM_005244749.2:c.3763G>A	XP_005244806.1:p.Ala1255Thr
XM_006710635.2:c.3763G>A	XP_006710698.1:p.Ala1255Thr
XM_011541429.1:c.3763G>A	XP_011539731.1:p.Ala1255Thr
XM_011541430.1:c.2890G>A	XP_011539732.1:p.Ala964Thr
XM_011541431.1:c.2029G>A	XP_011539733.1:p.Ala677Thr
XR_946650.1:n.3830G>A
NM_001364727.1:c.3448G>A	NP_001351656.1:p.Ala1150Thr
XM_005244749.3:c.3763G>A	XP_005244806.1:p.Ala1255Thr
XM_011541429.2:c.3763G>A	XP_011539731.1:p.Ala1255Thr
XR_946650.2:n.3834G>A
NM_001305275.2:c.3763G>A	NP_001292204.1:p.Ala1255Thr
NM_198576.4:c.3763G>A MANE Select	NP_940978.2:p.Ala1255Thr
NM_001364727.2:c.3448G>A	NP_001351656.1:p.Ala1150Thr