Canonical Allele Identifier: CA337852657

Gene: AGRN

Linked Data

• dbSNP Id: rs772021266
• gnomAD v4: 1-1048107-G-A
• MyVariant Identifiers: chr1:g.983487G>A (hg19) ; chr1:g.1048107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048107G>A , CM000663.2:g.1048107G>A	GRCh38
NC_000001.10:g.983487G>A , CM000663.1:g.983487G>A	GRCh37
NC_000001.9:g.973350G>A	NCBI36
NG_016346.1:g.32985G>A , LRG_198:g.32985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3847G>A MANE Select	ENSP00000368678.2:p.Ala1283Thr
ENST00000651234.1:c.3532G>A	ENSP00000499046.1:p.Ala1178Thr
ENST00000652369.1:c.3532G>A	ENSP00000498543.1:p.Ala1178Thr
ENST00000379370.6:c.3847G>A	ENSP00000368678.2:p.Ala1283Thr
ENST00000620552.4:c.3433G>A	ENSP00000484607.1:p.Ala1145Thr
NM_001305275.1:c.3847G>A	NP_001292204.1:p.Ala1283Thr
NM_198576.3:c.3847G>A	NP_940978.2:p.Ala1283Thr
XM_005244749.2:c.3847G>A	XP_005244806.1:p.Ala1283Thr
XM_006710635.2:c.3847G>A	XP_006710698.1:p.Ala1283Thr
XM_011541429.1:c.3847G>A	XP_011539731.1:p.Ala1283Thr
XM_011541430.1:c.2974G>A	XP_011539732.1:p.Ala992Thr
XM_011541431.1:c.2113G>A	XP_011539733.1:p.Ala705Thr
XR_946650.1:n.3914G>A
NM_001364727.1:c.3532G>A	NP_001351656.1:p.Ala1178Thr
XM_005244749.3:c.3847G>A	XP_005244806.1:p.Ala1283Thr
XM_011541429.2:c.3847G>A	XP_011539731.1:p.Ala1283Thr
XR_946650.2:n.3918G>A
NM_001305275.2:c.3847G>A	NP_001292204.1:p.Ala1283Thr
NM_198576.4:c.3847G>A MANE Select	NP_940978.2:p.Ala1283Thr
NM_001364727.2:c.3532G>A	NP_001351656.1:p.Ala1178Thr