Canonical Allele Identifier: CA337779053
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1319826378
gnomAD v2: 1-985115-G-A
gnomAD v4: 1-1049735-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1049735G>A , CM000663.2:g.1049735G>A GRCh38
NC_000001.10:g.985115G>A , CM000663.1:g.985115G>A GRCh37
NC_000001.9:g.974978G>A NCBI36
NG_016346.1:g.34613G>A , LRG_198:g.34613G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4684G>A MANE Select ENSP00000368678.2:p.Ala1562Thr
ENST00000651234.1:c.4369G>A ENSP00000499046.1:p.Ala1457Thr
ENST00000652369.1:c.4369G>A ENSP00000498543.1:p.Ala1457Thr
ENST00000379370.6:c.4684G>A ENSP00000368678.2:p.Ala1562Thr
ENST00000620552.4:c.4270G>A ENSP00000484607.1:p.Ala1424Thr
NM_001305275.1:c.4684G>A NP_001292204.1:p.Ala1562Thr
NM_198576.3:c.4684G>A NP_940978.2:p.Ala1562Thr
XM_005244749.2:c.4684G>A XP_005244806.1:p.Ala1562Thr
XM_006710635.2:c.4684G>A XP_006710698.1:p.Ala1562Thr
XM_011541429.1:c.4684G>A XP_011539731.1:p.Ala1562Thr
XM_011541430.1:c.3811G>A XP_011539732.1:p.Ala1271Thr
XM_011541431.1:c.2950G>A XP_011539733.1:p.Ala984Thr
XR_946650.1:n.4751G>A
NM_001364727.1:c.4369G>A NP_001351656.1:p.Ala1457Thr
XM_005244749.3:c.4684G>A XP_005244806.1:p.Ala1562Thr
XM_011541429.2:c.4684G>A XP_011539731.1:p.Ala1562Thr
XR_946650.2:n.4755G>A
NM_001305275.2:c.4684G>A NP_001292204.1:p.Ala1562Thr
NM_198576.4:c.4684G>A MANE Select NP_940978.2:p.Ala1562Thr
NM_001364727.2:c.4369G>A NP_001351656.1:p.Ala1457Thr