Canonical Allele Identifier: CA16760377
Gene: AGRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2475098
ClinVar RCV Id: RCV003186251
dbSNP Id: rs372543866
gnomAD v4: 1-1048281-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048281G>T , CM000663.2:g.1048281G>T GRCh38
NC_000001.10:g.983661G>T , CM000663.1:g.983661G>T GRCh37
NC_000001.9:g.973524G>T NCBI36
NG_016346.1:g.33159G>T , LRG_198:g.33159G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4021G>T MANE Select ENSP00000368678.2:p.Gly1341Trp
ENST00000651234.1:c.3706G>T ENSP00000499046.1:p.Gly1236Trp
ENST00000652369.1:c.3706G>T ENSP00000498543.1:p.Gly1236Trp
ENST00000379370.6:c.4021G>T ENSP00000368678.2:p.Gly1341Trp
ENST00000620552.4:c.3607G>T ENSP00000484607.1:p.Gly1203Trp
NM_001305275.1:c.4021G>T NP_001292204.1:p.Gly1341Trp
NM_198576.3:c.4021G>T NP_940978.2:p.Gly1341Trp
XM_005244749.2:c.4021G>T XP_005244806.1:p.Gly1341Trp
XM_006710635.2:c.4021G>T XP_006710698.1:p.Gly1341Trp
XM_011541429.1:c.4021G>T XP_011539731.1:p.Gly1341Trp
XM_011541430.1:c.3148G>T XP_011539732.1:p.Gly1050Trp
XM_011541431.1:c.2287G>T XP_011539733.1:p.Gly763Trp
XR_946650.1:n.4088G>T
NM_001364727.1:c.3706G>T NP_001351656.1:p.Gly1236Trp
XM_005244749.3:c.4021G>T XP_005244806.1:p.Gly1341Trp
XM_011541429.2:c.4021G>T XP_011539731.1:p.Gly1341Trp
XR_946650.2:n.4092G>T
NM_001305275.2:c.4021G>T NP_001292204.1:p.Gly1341Trp
NM_198576.4:c.4021G>T MANE Select NP_940978.2:p.Gly1341Trp
NM_001364727.2:c.3706G>T NP_001351656.1:p.Gly1236Trp